Canonical Allele Identifier: CA360626113

Gene: MCC

Linked Data

• dbSNP Id: rs1309321983
• gnomAD v2: 5-112399730-C-T
• gnomAD v4: 5-113064033-C-T
• MyVariant Identifiers: chr5:g.112399730C>T (hg19) ; chr5:g.113064033C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064033C>T , CM000667.2:g.113064033C>T	GRCh38
NC_000005.9:g.112399730C>T , CM000667.1:g.112399730C>T	GRCh37
NC_000005.8:g.112427629C>T	NCBI36
NG_012265.1:g.429798G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.1594G>A	ENSP00000305617.4:p.Gly532Ser
ENST00000408903.7:c.2164G>A MANE Select	ENSP00000386227.3:p.Gly722Ser
ENST00000302475.8:c.1594G>A	ENSP00000305617.4:p.Gly532Ser
ENST00000408903.6:c.2164G>A	ENSP00000386227.3:p.Gly722Ser
ENST00000514701.5:c.1594G>A	ENSP00000485220.1:p.Gly532Ser
ENST00000515367.6:c.1405G>A	ENSP00000421615.2:p.Gly469Ser
ENST00000624689.3:c.8G>A
NM_001085377.1:c.2164G>A	NP_001078846.1:p.Gly722Ser
NM_002387.2:c.1594G>A	NP_002378.1:p.Gly532Ser
XM_005271991.2:c.1594G>A	XP_005272048.1:p.Gly532Ser
XM_005271991.3:c.1594G>A	XP_005272048.1:p.Gly532Ser
XM_017009473.1:c.2164G>A	XP_016864962.1:p.Gly722Ser
XM_017009474.1:c.1564G>A	XP_016864963.1:p.Gly522Ser
XM_024446049.1:c.1405G>A	XP_024301817.1:p.Gly469Ser
XM_024446050.1:c.1405G>A	XP_024301818.1:p.Gly469Ser
XM_024446051.1:c.1405G>A	XP_024301819.1:p.Gly469Ser
XM_024446052.1:c.1405G>A	XP_024301820.1:p.Gly469Ser
NM_001085377.2:c.2164G>A MANE Select	NP_001078846.2:p.Gly722Ser
NM_002387.3:c.1594G>A	NP_002378.2:p.Gly532Ser