Canonical Allele Identifier: CA399482163
Gene: KRT13 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.41502942T>A
GRCh37 chr17:g.39659194T>A
Revel Score:
ENST00000246635 (MANE Select) 0.092
ENST00000336861 0.092
ENST00000157775 0.092
dbSNP:
4796697
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41502942T>A , CM000679.2:g.41502942T>A GRCh38
NC_000017.10:g.39659194T>A , CM000679.1:g.39659194T>A GRCh37
NC_000017.9:g.36912720T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000246635.8:c.892A>T MANE Select ENSP00000246635.3:p.Thr298Ser
ENST00000246635.7:c.892A>T ENSP00000246635.3:p.Thr298Ser
ENST00000336861.7:c.892A>T ENSP00000336604.3:p.Thr298Ser
ENST00000464634.2:c.*489A>T ENSP00000466525.1:n.*489A>T
ENST00000468313.5:n.728A>T
ENST00000587544.5:c.892A>T ENSP00000468221.1:p.Thr298Ser
NM_153490.3:c.892A>T MANE Select NP_705694.3:p.Thr298Ser
NM_002274.4:c.892A>T NP_002265.3:p.Thr298Ser
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