Canonical Allele Identifier: CA8548962
Gene: KRT12 HGNC NCBI

Linked Data

ClinVar Variation Id: 3116319
ClinVar RCV Id: RCV004412183
dbSNP Id: rs781154839
ExAC: 17:39023339 A / G
MyVariant Identifiers: chr17:g.39023339A>G (hg19) chr17:g.40867087A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40867087A>G , CM000679.2:g.40867087A>G GRCh38
NC_000017.10:g.39023339A>G , CM000679.1:g.39023339A>G GRCh37
NC_000017.9:g.36276865A>G NCBI36
NG_008077.1:g.5124T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.100T>C MANE Select ENSP00000251643.4:p.Ser34Pro
ENST00000647902.1:c.100T>C ENSP00000497770.1:p.Ser34Pro
ENST00000251643.4:c.100T>C ENSP00000251643.4:p.Ser34Pro
NM_000223.3:c.100T>C NP_000214.1:p.Ser34Pro
XR_934754.1:n.1500+16227A>G
XR_934754.2:n.2008+16227A>G
NM_000223.4:c.100T>C MANE Select NP_000214.1:p.Ser34Pro
Search 100 bp 5'
Search 100 bp 3'