Canonical Allele Identifier: CA399389319
Gene: KRT12 HGNC NCBI

Linked Data

dbSNP Id: rs774610996
gnomAD v2: 17-39023278-C-G
gnomAD v4: 17-40867026-C-G
MyVariant Identifiers: chr17:g.39023278C>G (hg19) chr17:g.40867026C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40867026C>G , CM000679.2:g.40867026C>G GRCh38
NC_000017.10:g.39023278C>G , CM000679.1:g.39023278C>G GRCh37
NC_000017.9:g.36276804C>G NCBI36
NG_008077.1:g.5185G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.161G>C MANE Select ENSP00000251643.4:p.Gly54Ala
ENST00000647902.1:c.161G>C ENSP00000497770.1:p.Gly54Ala
ENST00000251643.4:c.161G>C ENSP00000251643.4:p.Gly54Ala
NM_000223.3:c.161G>C NP_000214.1:p.Gly54Ala
XR_934754.1:n.1500+16166C>G
XR_934754.2:n.2008+16166C>G
NM_000223.4:c.161G>C MANE Select NP_000214.1:p.Gly54Ala
Search 100 bp 5'
Search 100 bp 3'