Canonical Allele Identifier: CA358351690

Gene: MMAA

Linked Data

• dbSNP Id: rs1204836039
• gnomAD v2: 4-146560430-C-G
• gnomAD v4: 4-145639278-C-G
• MyVariant Identifiers: chr4:g.146560430C>G (hg19) ; chr4:g.145639278C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639278C>G , CM000666.2:g.145639278C>G	GRCh38
NC_000004.11:g.146560430C>G , CM000666.1:g.146560430C>G	GRCh37
NC_000004.10:g.146779880C>G	NCBI36
NG_007536.1:g.24981C>G
NG_007536.2:g.45237C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000541599.5:c.139C>G	ENSP00000442284.3:p.Leu47Val
ENST00000647947.1:c.139C>G	ENSP00000496781.1:p.Leu47Val
ENST00000648388.1:c.139C>G	ENSP00000497046.1:p.Leu47Val
ENST00000649156.2:c.139C>G MANE Select	ENSP00000497008.1:p.Leu47Val
ENST00000649173.1:c.139C>G	ENSP00000497871.1:p.Leu47Val
ENST00000649704.1:c.139C>G	ENSP00000497680.1:p.Leu47Val
ENST00000679563.1:c.139C>G	ENSP00000506503.1:p.Leu47Val
ENST00000679930.1:c.139C>G	ENSP00000506293.1:p.Leu47Val
ENST00000281317.9:c.139C>G	ENSP00000281317.5:p.Leu47Val
ENST00000506919.1:n.627C>G
ENST00000511969.4:c.139C>G	ENSP00000427422.1:p.Leu47Val
ENST00000541599.4:c.139C>G	ENSP00000442284.2:p.Leu47Val
NM_172250.2:c.139C>G	NP_758454.1:p.Leu47Val
XM_011531684.1:c.139C>G	XP_011529986.1:p.Leu47Val
XM_011531685.1:c.139C>G	XP_011529987.1:p.Leu47Val
NM_172250.3:c.139C>G MANE Select	NP_758454.1:p.Leu47Val
XM_011531684.3:c.139C>G	XP_011529986.1:p.Leu47Val
XM_011531685.2:c.139C>G	XP_011529987.1:p.Leu47Val
XM_011531686.2:c.-645C>G	XP_011529988.1:n.-645C>G
NM_001375644.1:c.139C>G	NP_001362573.1:p.Leu47Val