Canonical Allele Identifier: CA506117343
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1410827973
gnomAD v2: 19-18896531-G-A
MyVariant Identifiers: chr19:g.18896531G>A (hg19) chr19:g.18785721G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785721G>A , CM000681.2:g.18785721G>A GRCh38
NC_000019.9:g.18896531G>A , CM000681.1:g.18896531G>A GRCh37
NC_000019.8:g.18757531G>A NCBI36
NG_007070.1:g.10584C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1620C>T MANE Select ENSP00000222271.2:p.Asp540=
ENST00000222271.6:c.1620C>T ENSP00000222271.2:p.Asp540=
ENST00000425807.1:c.1461C>T ENSP00000403792.1:p.Asp487=
ENST00000542601.6:c.1521C>T ENSP00000439156.2:p.Asp507=
NM_000095.2:c.1620C>T NP_000086.2:p.Asp540=
NM_000095.3:c.1620C>T MANE Select NP_000086.2:p.Asp540=
Search 100 bp 5'
Search 100 bp 3'