Canonical Allele Identifier: CA306257153
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs916532616
MyVariant Identifiers: chr19:g.18787958C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787958C>A , CM000681.2:g.18787958C>A GRCh38
NC_000019.9:g.18898767C>A , CM000681.1:g.18898767C>A GRCh37
NC_000019.8:g.18759767C>A NCBI36
NG_007070.1:g.8348G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.975+254G>T MANE Select ENSP00000222271.2:n.975+254G>T
ENST00000222271.6:c.975+254G>T ENSP00000222271.2:n.975+254G>T
ENST00000425807.1:c.816+254G>T ENSP00000403792.1:n.816+254G>T
ENST00000542601.6:c.876+254G>T ENSP00000439156.2:n.876+254G>T
NM_000095.2:c.975+254G>T NP_000086.2:n.975+254G>T
NM_000095.3:c.975+254G>T MANE Select NP_000086.2:n.975+254G>T