Canonical Allele Identifier: CA479848532

Gene: KRT5

Linked Data

• dbSNP Id: rs1938694334
• gnomAD v3: 12-52520216-G-A
• gnomAD v4: 12-52520216-G-A
• MyVariant Identifiers: chr12:g.52914000G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52520216G>A , CM000674.2:g.52520216G>A	GRCh38
NC_000012.11:g.52914000G>A , CM000674.1:g.52914000G>A	GRCh37
NC_000012.10:g.51200267G>A	NCBI36
NG_008297.1:g.5244C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.81C>T MANE Select	ENSP00000252242.4:p.Val27=
ENST00000252242.8:c.81C>T	ENSP00000252242.4:p.Val27=
ENST00000546577.1:c.81C>T	ENSP00000449651.1:p.Val27=
ENST00000549420.1:c.43+38C>T	ENSP00000447209.1:n.43+38C>T
ENST00000551275.1:c.81C>T	ENSP00000448041.1:p.Val27=
ENST00000552629.5:n.179C>T
NM_000424.3:c.81C>T	NP_000415.2:p.Val27=
NM_000424.4:c.81C>T MANE Select	NP_000415.2:p.Val27=