Canonical Allele Identifier: CA8563329
Gene: KRT16 HGNC NCBI

Linked Data

dbSNP Id: rs775300928
ExAC: 17:39768768 G / A
gnomAD v2: 17-39768768-G-A
gnomAD v4: 17-41612516-G-A
MyVariant Identifiers: chr17:g.39768768G>A (hg19) chr17:g.41612516G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612516G>A , CM000679.2:g.41612516G>A GRCh38
NC_000017.10:g.39768768G>A , CM000679.1:g.39768768G>A GRCh37
NC_000017.9:g.37022294G>A NCBI36
NG_008301.1:g.5312C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.173C>T MANE Select ENSP00000301653.3:p.Ser58Phe
ENST00000301653.8:c.173C>T ENSP00000301653.3:p.Ser58Phe
ENST00000588319.1:n.250C>T
ENST00000593067.1:c.-312-230C>T ENSP00000467124.1:n.-312-230C>T
NM_005557.3:c.173C>T NP_005548.2:p.Ser58Phe
NM_005557.4:c.173C>T MANE Select NP_005548.2:p.Ser58Phe
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