Canonical Allele Identifier: CA237229821

Gene: KRT5

Linked Data

• dbSNP Id: rs1019258591
• gnomAD v2: 12-52914298-G-A
• gnomAD v3: 12-52520514-G-A
• gnomAD v4: 12-52520514-G-A
• MyVariant Identifiers: chr12:g.52914298G>A (hg19) ; chr12:g.52520514G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52520514G>A , CM000674.2:g.52520514G>A	GRCh38
NC_000012.11:g.52914298G>A , CM000674.1:g.52914298G>A	GRCh37
NC_000012.10:g.51200565G>A	NCBI36
NG_008297.1:g.4946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.8:c.-218C>T	ENSP00000252242.4:n.-218C>T
ENST00000546577.1:c.-130C>T	ENSP00000449651.1:n.-130C>T