Canonical Allele Identifier: CA384931132

Gene: KRT5

Linked Data

• dbSNP Id: rs1235374200
• gnomAD v2: 12-52914002-C-T
• MyVariant Identifiers: chr12:g.52914002C>T (hg19) ; chr12:g.52520218C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52520218C>T , CM000674.2:g.52520218C>T	GRCh38
NC_000012.11:g.52914002C>T , CM000674.1:g.52914002C>T	GRCh37
NC_000012.10:g.51200269C>T	NCBI36
NG_008297.1:g.5242G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.79G>A MANE Select	ENSP00000252242.4:p.Val27Ile
ENST00000252242.8:c.79G>A	ENSP00000252242.4:p.Val27Ile
ENST00000546577.1:c.79G>A	ENSP00000449651.1:p.Val27Ile
ENST00000549420.1:c.43+36G>A	ENSP00000447209.1:n.43+36G>A
ENST00000551275.1:c.79G>A	ENSP00000448041.1:p.Val27Ile
ENST00000552629.5:n.177G>A
NM_000424.3:c.79G>A	NP_000415.2:p.Val27Ile
NM_000424.4:c.79G>A MANE Select	NP_000415.2:p.Val27Ile