Canonical Allele Identifier: CA127322
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17645
dbSNP Id: rs121912769

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034711G>A , CM000672.2:g.104034711G>A GRCh38
NC_000010.10:g.105794469G>A , CM000672.1:g.105794469G>A GRCh37
NC_000010.9:g.105784459G>A NCBI36
NG_007069.1:g.56170C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:n.3430C>T ENSP00000358748.3:p.Arg1144Ter
ENST00000648076.2:c.3676C>T MANE Select ENSP00000497653.1:p.Arg1226Ter
ENST00000353479.9:c.3676C>T ENSP00000340937.5:p.Arg1226Ter
ENST00000369733.7:c.3430C>T ENSP00000358748.3:p.Arg1144Ter
NM_000494.3:c.3676C>T NP_000485.3:p.Arg1226Ter
NM_000494.4:c.3676C>T MANE Select NP_000485.3:p.Arg1226Ter