Canonical Allele Identifier: CA8563330
Gene: KRT16 HGNC NCBI

Linked Data

dbSNP Id: rs762772172
ExAC: 17:39768769 A / C
gnomAD v2: 17-39768769-A-C
gnomAD v4: 17-41612517-A-C
MyVariant Identifiers: chr17:g.39768769A>C (hg19) chr17:g.41612517A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612517A>C , CM000679.2:g.41612517A>C GRCh38
NC_000017.10:g.39768769A>C , CM000679.1:g.39768769A>C GRCh37
NC_000017.9:g.37022295A>C NCBI36
NG_008301.1:g.5311T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.172T>G MANE Select ENSP00000301653.3:p.Ser58Ala
ENST00000301653.8:c.172T>G ENSP00000301653.3:p.Ser58Ala
ENST00000588319.1:n.249T>G
ENST00000593067.1:c.-312-231T>G ENSP00000467124.1:n.-312-231T>G
NM_005557.3:c.172T>G NP_005548.2:p.Ser58Ala
NM_005557.4:c.172T>G MANE Select NP_005548.2:p.Ser58Ala
Search 100 bp 5'
Search 100 bp 3'