Canonical Allele Identifier: CA384931399

Gene: KRT5

Linked Data

• dbSNP Id: rs1367644026
• gnomAD v2: 12-52914043-C-A
• gnomAD v4: 12-52520259-C-A
• MyVariant Identifiers: chr12:g.52914043C>A (hg19) ; chr12:g.52520259C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52520259C>A , CM000674.2:g.52520259C>A	GRCh38
NC_000012.11:g.52914043C>A , CM000674.1:g.52914043C>A	GRCh37
NC_000012.10:g.51200310C>A	NCBI36
NG_008297.1:g.5201G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.38G>T MANE Select	ENSP00000252242.4:p.Gly13Val
ENST00000252242.8:c.38G>T	ENSP00000252242.4:p.Gly13Val
ENST00000546577.1:c.38G>T	ENSP00000449651.1:p.Gly13Val
ENST00000549420.1:c.38G>T	ENSP00000447209.1:p.Gly13Val
ENST00000551275.1:c.38G>T	ENSP00000448041.1:p.Gly13Val
ENST00000552629.5:n.136G>T
NM_000424.3:c.38G>T	NP_000415.2:p.Gly13Val
NM_000424.4:c.38G>T MANE Select	NP_000415.2:p.Gly13Val