Canonical Allele Identifier: CA506051920
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1568553407
MyVariant Identifiers: chr19:g.18893949G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18783139G>A , CM000681.2:g.18783139G>A GRCh38
NC_000019.9:g.18893949G>A , CM000681.1:g.18893949G>A GRCh37
NC_000019.8:g.18754949G>A NCBI36
NG_007070.1:g.13166C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.2142C>T MANE Select ENSP00000222271.2:p.Asp714=
ENST00000222271.6:c.2142C>T ENSP00000222271.2:p.Asp714=
ENST00000425807.1:c.1983C>T ENSP00000403792.1:p.Asp661=
ENST00000542601.6:c.2043C>T ENSP00000439156.2:p.Asp681=
NM_000095.2:c.2142C>T NP_000086.2:p.Asp714=
NM_000095.3:c.2142C>T MANE Select NP_000086.2:p.Asp714=
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