Canonical Allele Identifier: CA6581902
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs564140506
ExAC: 12:52882279 G / T
gnomAD v2: 12-52882279-G-T
gnomAD v3: 12-52488495-G-T
gnomAD v4: 12-52488495-G-T
MyVariant Identifiers: chr12:g.52882279G>T (hg19) chr12:g.52488495G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488495G>T , CM000674.2:g.52488495G>T GRCh38
NC_000012.11:g.52882279G>T , CM000674.1:g.52882279G>T GRCh37
NC_000012.10:g.51168546G>T NCBI36
NG_008298.1:g.9903C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1257C>A MANE Select ENSP00000369317.3:p.Ala419=
ENST00000330722.6:c.1257C>A ENSP00000369317.3:p.Ala419=
NM_005554.3:c.1257C>A NP_005545.1:p.Ala419=
NM_005554.4:c.1257C>A MANE Select NP_005545.1:p.Ala419=
Search 100 bp 5'
Search 100 bp 3'