Canonical Allele Identifier: CA378065825
Gene: COL17A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034305G>C , CM000672.2:g.104034305G>C GRCh38
NC_000010.10:g.105794063G>C , CM000672.1:g.105794063G>C GRCh37
NC_000010.9:g.105784053G>C NCBI36
NG_007069.1:g.56576C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3550C>G ENSP00000358748.3:p.Pro1184Ala
ENST00000648076.2:c.3796C>G MANE Select ENSP00000497653.1:p.Pro1266Ala
ENST00000353479.9:c.3796C>G ENSP00000340937.5:p.Pro1266Ala
ENST00000369733.7:c.3550C>G ENSP00000358748.3:p.Pro1184Ala
NM_000494.3:c.3796C>G NP_000485.3:p.Pro1266Ala
NM_000494.4:c.3796C>G MANE Select NP_000485.3:p.Pro1266Ala