Canonical Allele Identifier: CA480073025
Gene: KRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53069175G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675391G>T , CM000674.2:g.52675391G>T GRCh38
NC_000012.11:g.53069175G>T , CM000674.1:g.53069175G>T GRCh37
NC_000012.10:g.51355442G>T NCBI36
NG_008364.1:g.10017C>A
NG_008364.2:g.10017C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1737C>A MANE Select ENSP00000252244.3:p.Gly579=
NM_006121.3:c.1737C>A NP_006112.3:p.Gly579=
NM_006121.4:c.1737C>A MANE Select NP_006112.3:p.Gly579=