Canonical Allele Identifier: CA8548963
Gene: KRT12 HGNC NCBI

Linked Data

dbSNP Id: rs745841591
ExAC: 17:39023340 C / G
gnomAD v2: 17-39023340-C-G
gnomAD v4: 17-40867088-C-G
MyVariant Identifiers: chr17:g.39023340C>G (hg19) chr17:g.40867088C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40867088C>G , CM000679.2:g.40867088C>G GRCh38
NC_000017.10:g.39023340C>G , CM000679.1:g.39023340C>G GRCh37
NC_000017.9:g.36276866C>G NCBI36
NG_008077.1:g.5123G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.99G>C MANE Select ENSP00000251643.4:p.Met33Ile
ENST00000647902.1:c.99G>C ENSP00000497770.1:p.Met33Ile
ENST00000251643.4:c.99G>C ENSP00000251643.4:p.Met33Ile
NM_000223.3:c.99G>C NP_000214.1:p.Met33Ile
XR_934754.1:n.1500+16228C>G
XR_934754.2:n.2008+16228C>G
NM_000223.4:c.99G>C MANE Select NP_000214.1:p.Met33Ile
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