Canonical Allele Identifier: CA479853459
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1417761581
MyVariant Identifiers: chr12:g.52882225G>C (hg19) chr12:g.52488441G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488441G>C , CM000674.2:g.52488441G>C GRCh38
NC_000012.11:g.52882225G>C , CM000674.1:g.52882225G>C GRCh37
NC_000012.10:g.51168492G>C NCBI36
NG_008298.1:g.9957C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1311C>G MANE Select ENSP00000369317.3:p.Ala437=
ENST00000330722.6:c.1311C>G ENSP00000369317.3:p.Ala437=
NM_005554.3:c.1311C>G NP_005545.1:p.Ala437=
NM_005554.4:c.1311C>G MANE Select NP_005545.1:p.Ala437=
Search 100 bp 5'
Search 100 bp 3'