Canonical Allele Identifier: CA8548935
Gene: KRT12 HGNC NCBI

Linked Data

dbSNP Id: rs748781010
ExAC: 17:39023212 G / C
gnomAD v2: 17-39023212-G-C
gnomAD v4: 17-40866960-G-C
MyVariant Identifiers: chr17:g.39023212G>C (hg19) chr17:g.40866960G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40866960G>C , CM000679.2:g.40866960G>C GRCh38
NC_000017.10:g.39023212G>C , CM000679.1:g.39023212G>C GRCh37
NC_000017.9:g.36276738G>C NCBI36
NG_008077.1:g.5251C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.227C>G MANE Select ENSP00000251643.4:p.Ser76Cys
ENST00000647902.1:c.211+16C>G ENSP00000497770.1:n.211+16C>G
ENST00000251643.4:c.227C>G ENSP00000251643.4:p.Ser76Cys
NM_000223.3:c.227C>G NP_000214.1:p.Ser76Cys
XR_934754.1:n.1500+16100G>C
XR_934754.2:n.2008+16100G>C
NM_000223.4:c.227C>G MANE Select NP_000214.1:p.Ser76Cys
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