Canonical Allele Identifier: CA237228582

Gene: KRT6A

Linked Data

• dbSNP Id: rs950919589
• gnomAD v3: 12-52487940-G-C
• gnomAD v4: 12-52487940-G-C
• MyVariant Identifiers: chr12:g.52881724G>C (hg19) ; chr12:g.52487940G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52487940G>C , CM000674.2:g.52487940G>C	GRCh38
NC_000012.11:g.52881724G>C , CM000674.1:g.52881724G>C	GRCh37
NC_000012.10:g.51167991G>C	NCBI36
NG_008298.1:g.10458C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1475C>G MANE Select	ENSP00000369317.3:p.Thr492Ser
ENST00000330722.6:c.1475C>G	ENSP00000369317.3:p.Thr492Ser
NM_005554.3:c.1475C>G	NP_005545.1:p.Thr492Ser
NM_005554.4:c.1475C>G MANE Select	NP_005545.1:p.Thr492Ser