Canonical Allele Identifier: CA384952727

Gene: KRT6A

Linked Data

• dbSNP Id: rs1429207592
• gnomAD v2: 12-52881652-G-A
• gnomAD v4: 12-52487868-G-A
• MyVariant Identifiers: chr12:g.52881652G>A (hg19) ; chr12:g.52487868G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52487868G>A , CM000674.2:g.52487868G>A	GRCh38
NC_000012.11:g.52881652G>A , CM000674.1:g.52881652G>A	GRCh37
NC_000012.10:g.51167919G>A	NCBI36
NG_008298.1:g.10530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1547C>T MANE Select	ENSP00000369317.3:p.Ser516Phe
ENST00000330722.6:c.1547C>T	ENSP00000369317.3:p.Ser516Phe
NM_005554.3:c.1547C>T	NP_005545.1:p.Ser516Phe
NM_005554.4:c.1547C>T MANE Select	NP_005545.1:p.Ser516Phe