Canonical Allele Identifier: CA5094588
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs138643476
ExAC: 9:80409427 T / C
gnomAD v2: 9-80409427-T-C
gnomAD v3: 9-77794511-T-C
gnomAD v4: 9-77794511-T-C
MyVariant Identifiers: chr9:g.80409427T>C (hg19) chr9:g.77794511T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794511T>C , CM000671.2:g.77794511T>C GRCh38
NC_000009.11:g.80409427T>C , CM000671.1:g.80409427T>C GRCh37
NC_000009.10:g.79599247T>C NCBI36
NG_027904.2:g.241793A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.687A>G MANE Select ENSP00000286548.4:p.Leu229=
ENST00000286548.8:c.687A>G ENSP00000286548.4:p.Leu229=
NM_002072.4:c.687A>G NP_002063.2:p.Leu229=
XM_017014628.2:c.513A>G XP_016870117.1:p.Leu171=
NM_002072.5:c.687A>G MANE Select NP_002063.2:p.Leu229=
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