Canonical Allele Identifier: CA378065854
Gene: COL17A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034318G>C , CM000672.2:g.104034318G>C GRCh38
NC_000010.10:g.105794076G>C , CM000672.1:g.105794076G>C GRCh37
NC_000010.9:g.105784066G>C NCBI36
NG_007069.1:g.56563C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3537C>G ENSP00000358748.3:p.Ser1179Arg
ENST00000648076.2:c.3783C>G MANE Select ENSP00000497653.1:p.Ser1261Arg
ENST00000353479.9:c.3783C>G ENSP00000340937.5:p.Ser1261Arg
ENST00000369733.7:c.3537C>G ENSP00000358748.3:p.Ser1179Arg
NM_000494.3:c.3783C>G NP_000485.3:p.Ser1261Arg
NM_000494.4:c.3783C>G MANE Select NP_000485.3:p.Ser1261Arg