Canonical Allele Identifier: CA212450285
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs986793152

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034314T>C , CM000672.2:g.104034314T>C GRCh38
NC_000010.10:g.105794072T>C , CM000672.1:g.105794072T>C GRCh37
NC_000010.9:g.105784062T>C NCBI36
NG_007069.1:g.56567A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3541A>G ENSP00000358748.3:p.Ile1181Val
ENST00000648076.2:c.3787A>G MANE Select ENSP00000497653.1:p.Ile1263Val
ENST00000353479.9:c.3787A>G ENSP00000340937.5:p.Ile1263Val
ENST00000369733.7:c.3541A>G ENSP00000358748.3:p.Ile1181Val
NM_000494.3:c.3787A>G NP_000485.3:p.Ile1263Val
NM_000494.4:c.3787A>G MANE Select NP_000485.3:p.Ile1263Val