Canonical Allele Identifier: CA399389487
Gene: KRT12 HGNC NCBI

Linked Data

dbSNP Id: rs1249779228
gnomAD v2: 17-39023330-T-C
gnomAD v3: 17-40867078-T-C
gnomAD v4: 17-40867078-T-C
MyVariant Identifiers: chr17:g.39023330T>C (hg19) chr17:g.40867078T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40867078T>C , CM000679.2:g.40867078T>C GRCh38
NC_000017.10:g.39023330T>C , CM000679.1:g.39023330T>C GRCh37
NC_000017.9:g.36276856T>C NCBI36
NG_008077.1:g.5133A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.109A>G MANE Select ENSP00000251643.4:p.Ser37Gly
ENST00000647902.1:c.109A>G ENSP00000497770.1:p.Ser37Gly
ENST00000251643.4:c.109A>G ENSP00000251643.4:p.Ser37Gly
NM_000223.3:c.109A>G NP_000214.1:p.Ser37Gly
XR_934754.1:n.1500+16218T>C
XR_934754.2:n.2008+16218T>C
NM_000223.4:c.109A>G MANE Select NP_000214.1:p.Ser37Gly
Search 100 bp 5'
Search 100 bp 3'