Canonical Allele Identifier: CA8560563
Gene: KRT13 HGNC NCBI

Linked Data

ClinVar Variation Id: 323081
ClinVar RCV Id: RCV000354314 RCV003969916
dbSNP Id: rs139318123
ExAC: 17:39658953 A / G
gnomAD v2: 17-39658953-A-G
gnomAD v3: 17-41502701-A-G
gnomAD v4: 17-41502701-A-G
MyVariant Identifiers: chr17:g.39658953A>G (hg19) chr17:g.41502701A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41502701A>G , CM000679.2:g.41502701A>G GRCh38
NC_000017.10:g.39658953A>G , CM000679.1:g.39658953A>G GRCh37
NC_000017.9:g.36912479A>G NCBI36
NG_008406.1:g.7913T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000246635.8:c.1009T>C MANE Select ENSP00000246635.3:p.Ser337Pro
ENST00000246635.7:c.1009T>C ENSP00000246635.3:p.Ser337Pro
ENST00000336861.7:c.1009T>C ENSP00000336604.3:p.Ser337Pro
ENST00000464634.2:c.*606T>C ENSP00000466525.1:n.*606T>C
ENST00000468313.5:n.845T>C
ENST00000587544.5:c.1009T>C ENSP00000468221.1:p.Ser337Pro
NM_002274.3:c.1009T>C NP_002265.2:p.Ser337Pro
NM_153490.2:c.1009T>C NP_705694.2:p.Ser337Pro
NM_153490.3:c.1009T>C MANE Select NP_705694.3:p.Ser337Pro
NM_002274.4:c.1009T>C NP_002265.3:p.Ser337Pro
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