Canonical Allele Identifier: CA88701986

Gene: MCCC1

Linked Data

• dbSNP Id: rs913373392
• gnomAD v3: 3-183038923-T-C
• gnomAD v4: 3-183038923-T-C
• MyVariant Identifiers: chr3:g.182756711T>C (hg19) ; chr3:g.183038923T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183038923T>C , CM000665.2:g.183038923T>C	GRCh38
NC_000003.11:g.182756711T>C , CM000665.1:g.182756711T>C	GRCh37
NC_000003.10:g.184239405T>C	NCBI36
NG_008100.1:g.65655A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265594.9:c.1377+103A>G MANE Select	ENSP00000265594.4:n.1377+103A>G
ENST00000265594.8:c.1377+103A>G	ENSP00000265594.4:n.1377+103A>G
ENST00000476176.5:c.1236+103A>G	ENSP00000420433.1:n.1236+103A>G
ENST00000492597.5:c.1050+103A>G	ENSP00000419898.1:n.1050+103A>G
ENST00000495767.5:c.*958+103A>G	ENSP00000419658.1:n.*958+103A>G
ENST00000497830.5:c.*974+103A>G	ENSP00000420088.1:n.*974+103A>G
ENST00000497959.5:c.1263+103A>G	ENSP00000420648.1:n.1263+103A>G
ENST00000539926.5:c.927+103A>G	ENSP00000441253.2:n.927+103A>G
ENST00000610757.4:c.927+103A>G	ENSP00000480435.1:n.927+103A>G
ENST00000629669.2:c.1263+103A>G	ENSP00000486824.1:n.1263+103A>G
NM_001293273.1:c.1026+103A>G	NP_001280202.1:n.1026+103A>G
NM_020166.4:c.1377+103A>G	NP_064551.3:n.1377+103A>G
NR_120639.1:n.1291+103A>G
NR_120640.1:n.2044+103A>G
XM_006713702.1:c.1050+103A>G	XP_006713765.1:n.1050+103A>G
XM_011512992.1:c.1263+103A>G	XP_011511294.1:n.1263+103A>G
XM_011512993.1:c.1377+103A>G	XP_011511295.1:n.1377+103A>G
XR_241502.2:n.1524+103A>G
XR_924159.1:n.1524+103A>G
NM_001363880.1:c.1050+103A>G	NP_001350809.1:n.1050+103A>G
XM_011512992.2:c.1263+103A>G	XP_011511294.1:n.1263+103A>G
XR_001740207.2:n.1500+103A>G
XR_001740208.2:n.1500+103A>G
XR_001740209.2:n.1470+103A>G
XR_001740210.1:n.1330+103A>G
XR_002959553.1:n.1500+103A>G
XR_002959554.1:n.1500+103A>G
XR_241502.3:n.1470+103A>G
NM_020166.5:c.1377+103A>G MANE Select	NP_064551.3:n.1377+103A>G
NM_001293273.2:c.1026+103A>G	NP_001280202.1:n.1026+103A>G
NR_120639.2:n.1200+103A>G
NR_120640.2:n.2044+103A>G