Canonical Allele Identifier: CA404896748
Gene: COMP HGNC NCBI

Linked Data

gnomAD v4: 19-18789290-G-T
MyVariant Identifiers: chr19:g.18900099G>T (hg19) chr19:g.18789290G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789290G>T , CM000681.2:g.18789290G>T GRCh38
NC_000019.9:g.18900099G>T , CM000681.1:g.18900099G>T GRCh37
NC_000019.8:g.18761099G>T NCBI36
NG_007070.1:g.7016C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.398C>A MANE Select ENSP00000222271.2:p.Ala133Asp
ENST00000222271.6:c.398C>A ENSP00000222271.2:p.Ala133Asp
ENST00000425807.1:c.391-398C>A ENSP00000403792.1:n.391-398C>A
ENST00000542601.6:c.299C>A ENSP00000439156.2:p.Ala100Asp
NM_000095.2:c.398C>A NP_000086.2:p.Ala133Asp
NM_000095.3:c.398C>A MANE Select NP_000086.2:p.Ala133Asp
Search 100 bp 5'
Search 100 bp 3'