Canonical Allele Identifier: CA506117337
Gene: COMP HGNC NCBI

Linked Data

gnomAD v4: 19-18785718-C-G
MyVariant Identifiers: chr19:g.18896528C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785718C>G , CM000681.2:g.18785718C>G GRCh38
NC_000019.9:g.18896528C>G , CM000681.1:g.18896528C>G GRCh37
NC_000019.8:g.18757528C>G NCBI36
NG_007070.1:g.10587G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1623G>C MANE Select ENSP00000222271.2:p.Pro541=
ENST00000222271.6:c.1623G>C ENSP00000222271.2:p.Pro541=
ENST00000425807.1:c.1464G>C ENSP00000403792.1:p.Pro488=
ENST00000542601.6:c.1524G>C ENSP00000439156.2:p.Pro508=
NM_000095.2:c.1623G>C NP_000086.2:p.Pro541=
NM_000095.3:c.1623G>C MANE Select NP_000086.2:p.Pro541=
Search 100 bp 5'
Search 100 bp 3'