Canonical Allele Identifier: CA480073000
Gene: KRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53069160A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675376A>G , CM000674.2:g.52675376A>G GRCh38
NC_000012.11:g.53069160A>G , CM000674.1:g.53069160A>G GRCh37
NC_000012.10:g.51355427A>G NCBI36
NG_008364.1:g.10032T>C
NG_008364.2:g.10032T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1752T>C MANE Select ENSP00000252244.3:p.Ser584=
NM_006121.3:c.1752T>C NP_006112.3:p.Ser584=
NM_006121.4:c.1752T>C MANE Select NP_006112.3:p.Ser584=