Canonical Allele Identifier: CA384958900

Gene: KRT1

Linked Data

• gnomAD v4: 12-52675392-C-G
• MyVariant Identifiers: chr12:g.53069176C>G (hg19) ; chr12:g.52675392C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52675392C>G , CM000674.2:g.52675392C>G	GRCh38
NC_000012.11:g.53069176C>G , CM000674.1:g.53069176C>G	GRCh37
NC_000012.10:g.51355443C>G	NCBI36
NG_008364.1:g.10016G>C
NG_008364.2:g.10016G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1736G>C MANE Select	ENSP00000252244.3:p.Gly579Ala
NM_006121.3:c.1736G>C	NP_006112.3:p.Gly579Ala
NM_006121.4:c.1736G>C MANE Select	NP_006112.3:p.Gly579Ala