Canonical Allele Identifier: CA5094593
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs371519995
ExAC: 9:80409493 C / T
gnomAD v2: 9-80409493-C-T
gnomAD v3: 9-77794577-C-T
gnomAD v4: 9-77794577-C-T
MyVariant Identifiers: chr9:g.80409493C>T (hg19) chr9:g.77794577C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794577C>T , CM000671.2:g.77794577C>T GRCh38
NC_000009.11:g.80409493C>T , CM000671.1:g.80409493C>T GRCh37
NC_000009.10:g.79599313C>T NCBI36
NG_027904.2:g.241727G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.621G>A MANE Select ENSP00000286548.4:p.Gly207=
ENST00000286548.8:c.621G>A ENSP00000286548.4:p.Gly207=
NM_002072.4:c.621G>A NP_002063.2:p.Gly207=
XM_017014628.2:c.447G>A XP_016870117.1:p.Gly149=
NM_002072.5:c.621G>A MANE Select NP_002063.2:p.Gly207=
Search 100 bp 5'
Search 100 bp 3'