Canonical Allele Identifier: CA8548938
Gene: KRT12 HGNC NCBI

Linked Data

dbSNP Id: rs138169839
ExAC: 17:39023219 C / T
gnomAD v2: 17-39023219-C-T
gnomAD v4: 17-40866967-C-T
MyVariant Identifiers: chr17:g.39023219C>T (hg19) chr17:g.40866967C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40866967C>T , CM000679.2:g.40866967C>T GRCh38
NC_000017.10:g.39023219C>T , CM000679.1:g.39023219C>T GRCh37
NC_000017.9:g.36276745C>T NCBI36
NG_008077.1:g.5244G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.220G>A MANE Select ENSP00000251643.4:p.Gly74Arg
ENST00000647902.1:c.211+9G>A ENSP00000497770.1:n.211+9G>A
ENST00000251643.4:c.220G>A ENSP00000251643.4:p.Gly74Arg
NM_000223.3:c.220G>A NP_000214.1:p.Gly74Arg
XR_934754.1:n.1500+16107C>T
XR_934754.2:n.2008+16107C>T
NM_000223.4:c.220G>A MANE Select NP_000214.1:p.Gly74Arg
Search 100 bp 5'
Search 100 bp 3'