Canonical Allele Identifier: CA378065824
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1405485551

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3550C>T ENSP00000358748.3:p.Pro1184Ser
ENST00000648076.2:c.3796C>T MANE Select ENSP00000497653.1:p.Pro1266Ser
ENST00000353479.9:c.3796C>T ENSP00000340937.5:p.Pro1266Ser
ENST00000369733.7:c.3550C>T ENSP00000358748.3:p.Pro1184Ser
NM_000494.3:c.3796C>T NP_000485.3:p.Pro1266Ser
NM_000494.4:c.3796C>T MANE Select NP_000485.3:p.Pro1266Ser