Canonical Allele Identifier: CA6582973

Gene: KRT5

Linked Data

• dbSNP Id: rs753357425
• ExAC: 12:52914109 A / G
• gnomAD v2: 12-52914109-A-G
• gnomAD v3: 12-52520325-A-G
• gnomAD v4: 12-52520325-A-G
• MyVariant Identifiers: chr12:g.52914109A>G (hg19) ; chr12:g.52520325A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52520325A>G , CM000674.2:g.52520325A>G	GRCh38
NC_000012.11:g.52914109A>G , CM000674.1:g.52914109A>G	GRCh37
NC_000012.10:g.51200376A>G	NCBI36
NG_008297.1:g.5135T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.-29T>C MANE Select	ENSP00000252242.4:n.-29T>C
ENST00000252242.8:c.-29T>C	ENSP00000252242.4:n.-29T>C
ENST00000546577.1:c.-12-17T>C	ENSP00000449651.1:n.-12-17T>C
ENST00000549420.1:c.-29T>C	ENSP00000447209.1:n.-29T>C
ENST00000551275.1:c.-29T>C	ENSP00000448041.1:n.-29T>C
ENST00000552629.5:n.70T>C
NM_000424.3:c.-29T>C	NP_000415.2:n.-29T>C
NM_000424.4:c.-29T>C MANE Select	NP_000415.2:n.-29T>C