Canonical Allele Identifier: CA8548981
Gene: KRT12 HGNC NCBI

Linked Data

dbSNP Id: rs780056598
ExAC: 17:39023413 G / T
gnomAD v2: 17-39023413-G-T
gnomAD v3: 17-40867161-G-T
gnomAD v4: 17-40867161-G-T
MyVariant Identifiers: chr17:g.39023413G>T (hg19) chr17:g.40867161G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40867161G>T , CM000679.2:g.40867161G>T GRCh38
NC_000017.10:g.39023413G>T , CM000679.1:g.39023413G>T GRCh37
NC_000017.9:g.36276939G>T NCBI36
NG_008077.1:g.5050C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.26C>A MANE Select ENSP00000251643.4:p.Ser9Ter
ENST00000647902.1:c.26C>A ENSP00000497770.1:p.Ser9Ter
ENST00000251643.4:c.26C>A ENSP00000251643.4:p.Ser9Ter
NM_000223.3:c.26C>A NP_000214.1:p.Ser9Ter
XR_934754.1:n.1500+16301G>T
XR_934754.2:n.2008+16301G>T
NM_000223.4:c.26C>A MANE Select NP_000214.1:p.Ser9Ter
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