Canonical Allele Identifier: CA404896512
Gene: COMP HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.18900061T>A (hg19) chr19:g.18789252T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789252T>A , CM000681.2:g.18789252T>A GRCh38
NC_000019.9:g.18900061T>A , CM000681.1:g.18900061T>A GRCh37
NC_000019.8:g.18761061T>A NCBI36
NG_007070.1:g.7054A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.436A>T MANE Select ENSP00000222271.2:p.Ser146Cys
ENST00000222271.6:c.436A>T ENSP00000222271.2:p.Ser146Cys
ENST00000425807.1:c.391-360A>T ENSP00000403792.1:n.391-360A>T
ENST00000542601.6:c.337A>T ENSP00000439156.2:p.Ser113Cys
NM_000095.2:c.436A>T NP_000086.2:p.Ser146Cys
NM_000095.3:c.436A>T MANE Select NP_000086.2:p.Ser146Cys
Search 100 bp 5'
Search 100 bp 3'