Canonical Allele Identifier: CA378065838
Gene: COL17A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034310A>T , CM000672.2:g.104034310A>T GRCh38
NC_000010.10:g.105794068A>T , CM000672.1:g.105794068A>T GRCh37
NC_000010.9:g.105784058A>T NCBI36
NG_007069.1:g.56571T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3545T>A ENSP00000358748.3:p.Val1182Asp
ENST00000648076.2:c.3791T>A MANE Select ENSP00000497653.1:p.Val1264Asp
ENST00000353479.9:c.3791T>A ENSP00000340937.5:p.Val1264Asp
ENST00000369733.7:c.3545T>A ENSP00000358748.3:p.Val1182Asp
NM_000494.3:c.3791T>A NP_000485.3:p.Val1264Asp
NM_000494.4:c.3791T>A MANE Select NP_000485.3:p.Val1264Asp