Canonical Allele Identifier: CA399389380
Gene: KRT12 HGNC NCBI

Linked Data

gnomAD v4: 17-40867050-G-A
MyVariant Identifiers: chr17:g.39023302G>A (hg19) chr17:g.40867050G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40867050G>A , CM000679.2:g.40867050G>A GRCh38
NC_000017.10:g.39023302G>A , CM000679.1:g.39023302G>A GRCh37
NC_000017.9:g.36276828G>A NCBI36
NG_008077.1:g.5161C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.137C>T MANE Select ENSP00000251643.4:p.Ala46Val
ENST00000647902.1:c.137C>T ENSP00000497770.1:p.Ala46Val
ENST00000251643.4:c.137C>T ENSP00000251643.4:p.Ala46Val
NM_000223.3:c.137C>T NP_000214.1:p.Ala46Val
XR_934754.1:n.1500+16190G>A
XR_934754.2:n.2008+16190G>A
NM_000223.4:c.137C>T MANE Select NP_000214.1:p.Ala46Val
Search 100 bp 5'
Search 100 bp 3'