Canonical Allele Identifier: CA5679345
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 256276
dbSNP Id: rs805708

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104064575G>A , CM000672.2:g.104064575G>A GRCh38
NC_000010.10:g.105824333G>A , CM000672.1:g.105824333G>A GRCh37
NC_000010.9:g.105814323G>A NCBI36
NG_007069.1:g.26306C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:n.629C>T ENSP00000358748.3:p.Thr210Met
ENST00000648076.2:c.629C>T MANE Select ENSP00000497653.1:p.Thr210Met
ENST00000650263.1:c.581C>T ENSP00000497850.1:p.Thr194Met
ENST00000353479.9:c.629C>T ENSP00000340937.5:p.Thr210Met
ENST00000369733.7:c.629C>T ENSP00000358748.3:p.Thr210Met
ENST00000393211.3:c.629C>T ENSP00000376905.3:p.Thr210Met
NM_000494.3:c.629C>T NP_000485.3:p.Thr210Met
NM_000494.4:c.629C>T MANE Select NP_000485.3:p.Thr210Met