Canonical Allele Identifier: CA384960519
Gene: KRT1 HGNC NCBI

Linked Data

dbSNP Id: rs1941489478

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675522C>G , CM000674.2:g.52675522C>G GRCh38
NC_000012.11:g.53069306C>G , CM000674.1:g.53069306C>G GRCh37
NC_000012.10:g.51355573C>G NCBI36
NG_008364.1:g.9886G>C
NG_008364.2:g.9886G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1606G>C MANE Select ENSP00000252244.3:p.Gly536Arg
NM_006121.3:c.1606G>C NP_006112.3:p.Gly536Arg
NM_006121.4:c.1606G>C MANE Select NP_006112.3:p.Gly536Arg