Canonical Allele Identifier: CA237229247

Gene: KRT5

Linked Data

• dbSNP Id: rs927242223
• gnomAD v2: 12-52913781-A-G
• gnomAD v4: 12-52519997-A-G
• MyVariant Identifiers: chr12:g.52913781A>G (hg19) ; chr12:g.52519997A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52519997A>G , CM000674.2:g.52519997A>G	GRCh38
NC_000012.11:g.52913781A>G , CM000674.1:g.52913781A>G	GRCh37
NC_000012.10:g.51200048A>G	NCBI36
NG_008297.1:g.5463T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.300T>C MANE Select	ENSP00000252242.4:p.Gly100=
ENST00000252242.8:c.300T>C	ENSP00000252242.4:p.Gly100=
ENST00000546577.1:c.300T>C	ENSP00000449651.1:p.Gly100=
ENST00000549420.1:c.44-74T>C	ENSP00000447209.1:n.44-74T>C
ENST00000551275.1:c.195T>C	ENSP00000448041.1:p.Gly65=
ENST00000552629.5:n.398T>C
NM_000424.3:c.300T>C	NP_000415.2:p.Gly100=
NM_000424.4:c.300T>C MANE Select	NP_000415.2:p.Gly100=