Canonical Allele Identifier: CA1933418334
Gene: COL17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034194G= , CM000672.2:g.104034194G= GRCh38
NC_000010.10:g.105793952G= , CM000672.1:g.105793952G= GRCh37
NC_000010.9:g.105783942G= NCBI36
NG_007069.1:g.56687C=

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3661C= ENSP00000358748.3:p.Arg1221=
ENST00000648076.2:c.3907C= MANE Select ENSP00000497653.1:p.Arg1303=
ENST00000353479.9:c.3907C= ENSP00000340937.5:p.Arg1303=
ENST00000369733.7:c.3661C= ENSP00000358748.3:p.Arg1221=
NM_000494.3:c.3907C= NP_000485.3:p.Arg1303=
NM_000494.4:c.3907C= MANE Select NP_000485.3:p.Arg1303=