Canonical Allele Identifier: CA1933418540
Gene: COL17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034326C= , CM000672.2:g.104034326C= GRCh38
NC_000010.10:g.105794084C= , CM000672.1:g.105794084C= GRCh37
NC_000010.9:g.105784074C= NCBI36
NG_007069.1:g.56555G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3529G= ENSP00000358748.3:p.Val1177=
ENST00000648076.2:c.3775G= MANE Select ENSP00000497653.1:p.Val1259=
ENST00000353479.9:c.3775G= ENSP00000340937.5:p.Val1259=
ENST00000369733.7:c.3529G= ENSP00000358748.3:p.Val1177=
NM_000494.3:c.3775G= NP_000485.3:p.Val1259=
NM_000494.4:c.3775G= MANE Select NP_000485.3:p.Val1259=