Canonical Allele Identifier: CA5679079
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 256266
dbSNP Id: rs805698

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104057158C>T , CM000672.2:g.104057158C>T GRCh38
NC_000010.10:g.105816916C>T , CM000672.1:g.105816916C>T GRCh37
NC_000010.9:g.105806906C>T NCBI36
NG_007069.1:g.33723G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:n.1282G>A ENSP00000358748.3:p.Gly428Ser
ENST00000648076.2:c.1282G>A MANE Select ENSP00000497653.1:p.Gly428Ser
ENST00000650263.1:c.1234G>A ENSP00000497850.1:p.Gly412Ser
ENST00000353479.9:c.1282G>A ENSP00000340937.5:p.Gly428Ser
ENST00000369733.7:c.1282G>A ENSP00000358748.3:p.Gly428Ser
NM_000494.3:c.1282G>A NP_000485.3:p.Gly428Ser
NM_000494.4:c.1282G>A MANE Select NP_000485.3:p.Gly428Ser