Canonical Allele Identifier: CA378065866
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1481807973

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034325A>G , CM000672.2:g.104034325A>G GRCh38
NC_000010.10:g.105794083A>G , CM000672.1:g.105794083A>G GRCh37
NC_000010.9:g.105784073A>G NCBI36
NG_007069.1:g.56556T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3530T>C ENSP00000358748.3:p.Val1177Ala
ENST00000648076.2:c.3776T>C MANE Select ENSP00000497653.1:p.Val1259Ala
ENST00000353479.9:c.3776T>C ENSP00000340937.5:p.Val1259Ala
ENST00000369733.7:c.3530T>C ENSP00000358748.3:p.Val1177Ala
NM_000494.3:c.3776T>C NP_000485.3:p.Val1259Ala
NM_000494.4:c.3776T>C MANE Select NP_000485.3:p.Val1259Ala