Canonical Allele Identifier: CA5094591
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs764918571
ExAC: 9:80409457 G / A
gnomAD v2: 9-80409457-G-A
gnomAD v3: 9-77794541-G-A
gnomAD v4: 9-77794541-G-A
MyVariant Identifiers: chr9:g.80409457G>A (hg19) chr9:g.77794541G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794541G>A , CM000671.2:g.77794541G>A GRCh38
NC_000009.11:g.80409457G>A , CM000671.1:g.80409457G>A GRCh37
NC_000009.10:g.79599277G>A NCBI36
NG_027904.2:g.241763C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.657C>T MANE Select ENSP00000286548.4:p.Cys219=
ENST00000286548.8:c.657C>T ENSP00000286548.4:p.Cys219=
NM_002072.4:c.657C>T NP_002063.2:p.Cys219=
XM_017014628.2:c.483C>T XP_016870117.1:p.Cys161=
NM_002072.5:c.657C>T MANE Select NP_002063.2:p.Cys219=
Search 100 bp 5'
Search 100 bp 3'