Canonical Allele Identifier: CA378065349
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1315294483

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034148G>A , CM000672.2:g.104034148G>A GRCh38
NC_000010.10:g.105793906G>A , CM000672.1:g.105793906G>A GRCh37
NC_000010.9:g.105783896G>A NCBI36
NG_007069.1:g.56733C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3707C>T ENSP00000358748.3:p.Ala1236Val
ENST00000648076.2:c.3953C>T MANE Select ENSP00000497653.1:p.Ala1318Val
ENST00000353479.9:c.3953C>T ENSP00000340937.5:p.Ala1318Val
ENST00000369733.7:c.3707C>T ENSP00000358748.3:p.Ala1236Val
NM_000494.3:c.3953C>T NP_000485.3:p.Ala1318Val
NM_000494.4:c.3953C>T MANE Select NP_000485.3:p.Ala1318Val