Canonical Allele Identifier: CA5679050
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 298734
ClinVar RCV Id: RCV002522139 RCV003546506
dbSNP Id: rs151271674
ExAC: 10:105816823 C / T
gnomAD v2: 10-105816823-C-T
gnomAD v3: 10-104057065-C-T
gnomAD v4: 10-104057065-C-T
MyVariant Identifiers: chr10:g.105816823C>T (hg19) chr10:g.104057065C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104057065C>T , CM000672.2:g.104057065C>T GRCh38
NC_000010.10:g.105816823C>T , CM000672.1:g.105816823C>T GRCh37
NC_000010.9:g.105806813C>T NCBI36
NG_007069.1:g.33816G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.1375G>A ENSP00000358748.3:p.Gly459Ser
ENST00000648076.2:c.1375G>A MANE Select ENSP00000497653.1:p.Gly459Ser
ENST00000650263.1:c.1327G>A ENSP00000497850.1:p.Gly443Ser
ENST00000353479.9:c.1375G>A ENSP00000340937.5:p.Gly459Ser
ENST00000369733.7:c.1375G>A ENSP00000358748.3:p.Gly459Ser
NM_000494.3:c.1375G>A NP_000485.3:p.Gly459Ser
NM_000494.4:c.1375G>A MANE Select NP_000485.3:p.Gly459Ser
Search 100 bp 5'
Search 100 bp 3'