Canonical Allele Identifier: CA605071437

Gene: KRT5

Linked Data

• dbSNP Id: rs1160366667
• gnomAD v2: 12-52914196-C-T
• gnomAD v3: 12-52520412-C-T
• gnomAD v4: 12-52520412-C-T
• MyVariant Identifiers: chr12:g.52914196C>T (hg19) ; chr12:g.52520412C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52520412C>T , CM000674.2:g.52520412C>T	GRCh38
NC_000012.11:g.52914196C>T , CM000674.1:g.52914196C>T	GRCh37
NC_000012.10:g.51200463C>T	NCBI36
NG_008297.1:g.5048G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.8:c.-116G>A	ENSP00000252242.4:n.-116G>A
ENST00000546577.1:c.-28G>A	ENSP00000449651.1:n.-28G>A
NM_000424.3:c.-116G>A	NP_000415.2:n.-116G>A