Canonical Allele Identifier: CA3369974

Gene: MCC

Linked Data

• dbSNP Id: rs758405860
• ExAC: 5:112399632 G / A
• gnomAD v2: 5-112399632-G-A
• gnomAD v4: 5-113063935-G-A
• MyVariant Identifiers: chr5:g.112399632G>A (hg19) ; chr5:g.113063935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113063935G>A , CM000667.2:g.113063935G>A	GRCh38
NC_000005.9:g.112399632G>A , CM000667.1:g.112399632G>A	GRCh37
NC_000005.8:g.112427531G>A	NCBI36
NG_012265.1:g.429896C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302475.9:c.1643+49C>T	ENSP00000305617.4:n.1643+49C>T
ENST00000408903.7:c.2213+49C>T MANE Select	ENSP00000386227.3:n.2213+49C>T
ENST00000302475.8:c.1643+49C>T	ENSP00000305617.4:n.1643+49C>T
ENST00000408903.6:c.2213+49C>T	ENSP00000386227.3:n.2213+49C>T
ENST00000514701.5:c.1643+49C>T	ENSP00000485220.1:n.1643+49C>T
ENST00000515367.6:c.1454+49C>T	ENSP00000421615.2:n.1454+49C>T
ENST00000624689.3:c.57+49C>T
NM_001085377.1:c.2213+49C>T	NP_001078846.1:n.2213+49C>T
NM_002387.2:c.1643+49C>T	NP_002378.1:n.1643+49C>T
XM_005271991.2:c.1643+49C>T	XP_005272048.1:n.1643+49C>T
XM_005271991.3:c.1643+49C>T	XP_005272048.1:n.1643+49C>T
XM_017009473.1:c.2213+49C>T	XP_016864962.1:n.2213+49C>T
XM_017009474.1:c.1613+49C>T	XP_016864963.1:n.1613+49C>T
XM_024446049.1:c.1454+49C>T	XP_024301817.1:n.1454+49C>T
XM_024446050.1:c.1454+49C>T	XP_024301818.1:n.1454+49C>T
XM_024446051.1:c.1454+49C>T	XP_024301819.1:n.1454+49C>T
XM_024446052.1:c.1454+49C>T	XP_024301820.1:n.1454+49C>T
NM_001085377.2:c.2213+49C>T MANE Select	NP_001078846.2:n.2213+49C>T
NM_002387.3:c.1643+49C>T	NP_002378.2:n.1643+49C>T