Canonical Allele Identifier: CA1933403057
Gene: COL17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104053116G= , CM000672.2:g.104053116G= GRCh38
NC_000010.10:g.105812874G= , CM000672.1:g.105812874G= GRCh37
NC_000010.9:g.105802864G= NCBI36
NG_007069.1:g.37765C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.1854C= ENSP00000358748.3:p.Gly618=
ENST00000648076.2:c.1854C= MANE Select ENSP00000497653.1:p.Gly618=
ENST00000650263.1:c.1806C= ENSP00000497850.1:p.Gly602=
ENST00000353479.9:c.1854C= ENSP00000340937.5:p.Gly618=
ENST00000369733.7:c.1854C= ENSP00000358748.3:p.Gly618=
NM_000494.3:c.1854C= NP_000485.3:p.Gly618=
NM_000494.4:c.1854C= MANE Select NP_000485.3:p.Gly618=