Canonical Allele Identifier: CA237229817

Gene: KRT5

Linked Data

• dbSNP Id: rs987127174
• gnomAD v3: 12-52520513-C-T
• gnomAD v4: 12-52520513-C-T
• MyVariant Identifiers: chr12:g.52914297C>T (hg19) ; chr12:g.52520513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52520513C>T , CM000674.2:g.52520513C>T	GRCh38
NC_000012.11:g.52914297C>T , CM000674.1:g.52914297C>T	GRCh37
NC_000012.10:g.51200564C>T	NCBI36
NG_008297.1:g.4947G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.8:c.-217G>A	ENSP00000252242.4:n.-217G>A
ENST00000546577.1:c.-129G>A	ENSP00000449651.1:n.-129G>A