Canonical Allele Identifier: CA8562800
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs751661237
ExAC: 17:39742911 G / A
gnomAD v2: 17-39742911-G-A
gnomAD v4: 17-41586659-G-A
MyVariant Identifiers: chr17:g.39742911G>A (hg19) chr17:g.41586659G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41586659G>A , CM000679.2:g.41586659G>A GRCh38
NC_000017.10:g.39742911G>A , CM000679.1:g.39742911G>A GRCh37
NC_000017.9:g.36996437G>A NCBI36
NG_008624.1:g.5237C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.176C>T MANE Select ENSP00000167586.6:p.Ser59Phe
ENST00000167586.6:c.176C>T ENSP00000167586.6:p.Ser59Phe
NM_000526.4:c.176C>T NP_000517.2:p.Ser59Phe
NM_000526.5:c.176C>T MANE Select NP_000517.3:p.Ser59Phe
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