Canonical Allele Identifier: CA8548948
Gene: KRT12 HGNC NCBI

Linked Data

ClinVar Variation Id: 3048993
ClinVar RCV Id: RCV003958906
dbSNP Id: rs141949869
ExAC: 17:39023279 C / T
gnomAD v2: 17-39023279-C-T
gnomAD v3: 17-40867027-C-T
gnomAD v4: 17-40867027-C-T
MyVariant Identifiers: chr17:g.39023279C>T (hg19) chr17:g.40867027C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40867027C>T , CM000679.2:g.40867027C>T GRCh38
NC_000017.10:g.39023279C>T , CM000679.1:g.39023279C>T GRCh37
NC_000017.9:g.36276805C>T NCBI36
NG_008077.1:g.5184G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.160G>A MANE Select ENSP00000251643.4:p.Gly54Arg
ENST00000647902.1:c.160G>A ENSP00000497770.1:p.Gly54Arg
ENST00000251643.4:c.160G>A ENSP00000251643.4:p.Gly54Arg
NM_000223.3:c.160G>A NP_000214.1:p.Gly54Arg
XR_934754.1:n.1500+16167C>T
XR_934754.2:n.2008+16167C>T
NM_000223.4:c.160G>A MANE Select NP_000214.1:p.Gly54Arg
Search 100 bp 5'
Search 100 bp 3'