Canonical Allele Identifier: CA561926336

Gene: MCC

Linked Data

• dbSNP Id: rs1285747465
• gnomAD v2: 5-112723474-A-T
• gnomAD v3: 5-113387777-A-T
• gnomAD v4: 5-113387777-A-T
• MyVariant Identifiers: chr5:g.112723474A>T (hg19) ; chr5:g.113387777A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113387777A>T , CM000667.2:g.113387777A>T	GRCh38
NC_000005.9:g.112723474A>T , CM000667.1:g.112723474A>T	GRCh37
NC_000005.8:g.112751373A>T	NCBI36
NG_012265.1:g.106054T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000408903.7:c.171-2565T>A MANE Select	ENSP00000386227.3:n.171-2565T>A
ENST00000408903.6:c.171-2565T>A	ENSP00000386227.3:n.171-2565T>A
NM_001085377.1:c.171-2565T>A	NP_001078846.1:n.171-2565T>A
XM_017009473.1:c.171-2565T>A	XP_016864962.1:n.171-2565T>A
NM_001085377.2:c.171-2565T>A MANE Select	NP_001078846.2:n.171-2565T>A