Canonical Allele Identifier: CA3369990

Gene: MCC

Linked Data

• dbSNP Id: rs764627013
• ExAC: 5:112399684 G / T
• gnomAD v2: 5-112399684-G-T
• gnomAD v3: 5-113063987-G-T
• gnomAD v4: 5-113063987-G-T
• MyVariant Identifiers: chr5:g.112399684G>T (hg19) ; chr5:g.113063987G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113063987G>T , CM000667.2:g.113063987G>T	GRCh38
NC_000005.9:g.112399684G>T , CM000667.1:g.112399684G>T	GRCh37
NC_000005.8:g.112427583G>T	NCBI36
NG_012265.1:g.429844C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.1640C>A	ENSP00000305617.4:p.Thr547Asn
ENST00000408903.7:c.2210C>A MANE Select	ENSP00000386227.3:p.Thr737Asn
ENST00000302475.8:c.1640C>A	ENSP00000305617.4:p.Thr547Asn
ENST00000408903.6:c.2210C>A	ENSP00000386227.3:p.Thr737Asn
ENST00000514701.5:c.1640C>A	ENSP00000485220.1:p.Thr547Asn
ENST00000515367.6:c.1451C>A	ENSP00000421615.2:p.Thr484Asn
ENST00000624689.3:c.54C>A
NM_001085377.1:c.2210C>A	NP_001078846.1:p.Thr737Asn
NM_002387.2:c.1640C>A	NP_002378.1:p.Thr547Asn
XM_005271991.2:c.1640C>A	XP_005272048.1:p.Thr547Asn
XM_005271991.3:c.1640C>A	XP_005272048.1:p.Thr547Asn
XM_017009473.1:c.2210C>A	XP_016864962.1:p.Thr737Asn
XM_017009474.1:c.1610C>A	XP_016864963.1:p.Thr537Asn
XM_024446049.1:c.1451C>A	XP_024301817.1:p.Thr484Asn
XM_024446050.1:c.1451C>A	XP_024301818.1:p.Thr484Asn
XM_024446051.1:c.1451C>A	XP_024301819.1:p.Thr484Asn
XM_024446052.1:c.1451C>A	XP_024301820.1:p.Thr484Asn
NM_001085377.2:c.2210C>A MANE Select	NP_001078846.2:p.Thr737Asn
NM_002387.3:c.1640C>A	NP_002378.2:p.Thr547Asn