Canonical Allele Identifier: CA5678696
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 256267
dbSNP Id: rs805722

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104050642T>C , CM000672.2:g.104050642T>C GRCh38
NC_000010.10:g.105810400T>C , CM000672.1:g.105810400T>C GRCh37
NC_000010.9:g.105800390T>C NCBI36
NG_007069.1:g.40239A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:n.2107A>G ENSP00000358748.3:p.Met703Val
ENST00000648076.2:c.2107A>G MANE Select ENSP00000497653.1:p.Met703Val
ENST00000353479.9:c.2107A>G ENSP00000340937.5:p.Met703Val
ENST00000369733.7:c.2107A>G ENSP00000358748.3:p.Met703Val
NM_000494.3:c.2107A>G NP_000485.3:p.Met703Val
NM_000494.4:c.2107A>G MANE Select NP_000485.3:p.Met703Val