Canonical Allele Identifier: CA399390064
Gene: KRT12 HGNC NCBI

Linked Data

dbSNP Id: rs772315405
gnomAD v2: 17-39023434-T-A
gnomAD v4: 17-40867182-T-A
MyVariant Identifiers: chr17:g.39023434T>A (hg19) chr17:g.40867182T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40867182T>A , CM000679.2:g.40867182T>A GRCh38
NC_000017.10:g.39023434T>A , CM000679.1:g.39023434T>A GRCh37
NC_000017.9:g.36276960T>A NCBI36
NG_008077.1:g.5029A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.5A>T MANE Select ENSP00000251643.4:p.Asp2Val
ENST00000647902.1:c.5A>T ENSP00000497770.1:p.Asp2Val
ENST00000251643.4:c.5A>T ENSP00000251643.4:p.Asp2Val
NM_000223.3:c.5A>T NP_000214.1:p.Asp2Val
XR_934754.1:n.1500+16322T>A
XR_934754.2:n.2008+16322T>A
NM_000223.4:c.5A>T MANE Select NP_000214.1:p.Asp2Val
Search 100 bp 5'
Search 100 bp 3'