Canonical Allele Identifier: CA384929636

Gene: KRT5

Linked Data

• dbSNP Id: rs1938684597
• MyVariant Identifiers: chr12:g.52913719G>T (hg19) ; chr12:g.52519935G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52519935G>T , CM000674.2:g.52519935G>T	GRCh38
NC_000012.11:g.52913719G>T , CM000674.1:g.52913719G>T	GRCh37
NC_000012.10:g.51199986G>T	NCBI36
NG_008297.1:g.5525C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.362C>A MANE Select	ENSP00000252242.4:p.Ala121Asp
ENST00000252242.8:c.362C>A	ENSP00000252242.4:p.Ala121Asp
ENST00000546577.1:c.362C>A	ENSP00000449651.1:p.Ala121Asp
ENST00000549420.1:c.44-12C>A	ENSP00000447209.1:n.44-12C>A
ENST00000551275.1:c.257C>A	ENSP00000448041.1:p.Ala86Asp
ENST00000552629.5:n.460C>A
NM_000424.3:c.362C>A	NP_000415.2:p.Ala121Asp
NM_000424.4:c.362C>A MANE Select	NP_000415.2:p.Ala121Asp