Canonical Allele Identifier: CA434306284

Gene: MITF

Linked Data

• gnomAD v4: 3-69951855-A-G
• MyVariant Identifiers: chr3:g.70001006A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951855A>G , CM000665.2:g.69951855A>G	GRCh38
NC_000003.11:g.70001006A>G , CM000665.1:g.70001006A>G	GRCh37
NC_000003.10:g.70083696A>G	NCBI36
NG_011631.1:g.217374A>G , LRG_776:g.217374A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.858A>G	ENSP00000324443.5:p.Lys286=
ENST00000687384.1:c.855A>G	ENSP00000510225.1:p.Lys285=
ENST00000689390.1:n.1080A>G
ENST00000693031.1:c.831A>G	ENSP00000509845.1:p.Lys277=
ENST00000693549.1:c.858A>G	ENSP00000509358.1:p.Lys286=
ENST00000314589.10:c.858A>G	ENSP00000324443.5:p.Lys286=
ENST00000352241.9:c.924A>G MANE Select	ENSP00000295600.8:p.Lys308=
ENST00000394351.9:c.603A>G MANE Plus Clinical	ENSP00000377880.3:p.Lys201=
ENST00000448226.9:c.903A>G	ENSP00000391803.3:p.Lys301=
ENST00000642352.1:c.906A>G	ENSP00000494105.1:p.Lys302=
ENST00000314557.10:c.585A>G	ENSP00000324246.6:p.Lys195=
ENST00000314589.9:c.858A>G	ENSP00000324443.5:p.Lys286=
ENST00000328528.10:c.903A>G	ENSP00000327867.6:p.Lys301=
ENST00000352241.8:c.906A>G	ENSP00000295600.7:p.Lys302=
ENST00000394351.7:c.603A>G	ENSP00000377880.3:p.Lys201=
ENST00000448226.6:c.924A>G	ENSP00000391803.2:p.Lys308=
ENST00000451708.5:c.876A>G	ENSP00000398639.1:p.Lys292=
ENST00000472437.5:c.750A>G	ENSP00000418845.1:p.Lys250=
ENST00000478490.5:c.*250A>G	ENSP00000433487.1:n.*250A>G
ENST00000531774.1:c.417A>G	ENSP00000435909.1:p.Lys139=
NM_000248.3:c.603A>G , LRG_776t1:c.603A>G	NP_000239.1:p.Lys201=
NM_001184967.1:c.750A>G	NP_001171896.1:p.Lys250=
NM_006722.2:c.903A>G	NP_006713.1:p.Lys301=
NM_198158.2:c.585A>G	NP_937801.1:p.Lys195=
NM_198159.2:c.906A>G	NP_937802.1:p.Lys302=
NM_198177.2:c.858A>G	NP_937820.1:p.Lys286=
NM_198178.2:c.417A>G	NP_937821.2:p.Lys139=
XM_005264754.1:c.924A>G	XP_005264811.1:p.Lys308=
XM_005264755.2:c.876A>G	XP_005264812.1:p.Lys292=
XM_006713164.2:c.768A>G	XP_006713227.1:p.Lys256=
XM_011533722.1:c.921A>G	XP_011532024.1:p.Lys307=
XM_011533723.1:c.873A>G	XP_011532025.1:p.Lys291=
XM_011533724.1:c.768A>G	XP_011532026.1:p.Lys256=
XM_011533725.1:c.756A>G	XP_011532027.1:p.Lys252=
XM_011533726.1:c.738A>G	XP_011532028.1:p.Lys246=
NM_001354604.1:c.924A>G	NP_001341533.1:p.Lys308=
NM_001354605.1:c.921A>G	NP_001341534.1:p.Lys307=
NM_001354606.1:c.903A>G	NP_001341535.1:p.Lys301=
NM_001354607.1:c.855A>G	NP_001341536.1:p.Lys285=
NM_001354608.1:c.750A>G	NP_001341537.1:p.Lys250=
NM_001184967.2:c.750A>G	NP_001171896.1:p.Lys250=
NM_001354604.2:c.924A>G MANE Select	NP_001341533.1:p.Lys308=
NM_001354605.2:c.921A>G	NP_001341534.1:p.Lys307=
NM_001354606.2:c.903A>G	NP_001341535.1:p.Lys301=
NM_001354607.2:c.855A>G	NP_001341536.1:p.Lys285=
NM_001354608.2:c.750A>G	NP_001341537.1:p.Lys250=
NM_198158.3:c.585A>G	NP_937801.1:p.Lys195=
NM_198159.3:c.906A>G	NP_937802.1:p.Lys302=
NM_198177.3:c.858A>G	NP_937820.1:p.Lys286=
NM_198178.3:c.417A>G	NP_937821.2:p.Lys139=
NM_000248.4:c.603A>G MANE Plus Clinical	NP_000239.1:p.Lys201=
NM_006722.3:c.903A>G	NP_006713.1:p.Lys301=