Canonical Allele Identifier: CA125026824

Gene: MCC

Linked Data

• dbSNP Id: rs887202340
• gnomAD v2: 5-112723695-G-T
• gnomAD v3: 5-113387998-G-T
• gnomAD v4: 5-113387998-G-T
• MyVariant Identifiers: chr5:g.112723695G>T (hg19) ; chr5:g.113387998G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113387998G>T , CM000667.2:g.113387998G>T	GRCh38
NC_000005.9:g.112723695G>T , CM000667.1:g.112723695G>T	GRCh37
NC_000005.8:g.112751594G>T	NCBI36
NG_012265.1:g.105833C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000408903.7:c.171-2786C>A MANE Select	ENSP00000386227.3:n.171-2786C>A
ENST00000408903.6:c.171-2786C>A	ENSP00000386227.3:n.171-2786C>A
NM_001085377.1:c.171-2786C>A	NP_001078846.1:n.171-2786C>A
XM_017009473.1:c.171-2786C>A	XP_016864962.1:n.171-2786C>A
NM_001085377.2:c.171-2786C>A MANE Select	NP_001078846.2:n.171-2786C>A