Canonical Allele Identifier: CA373997857
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118444160
MyVariant Identifiers: chr9:g.80409476C>G (hg19) chr9:g.77794560C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794560C>G , CM000671.2:g.77794560C>G GRCh38
NC_000009.11:g.80409476C>G , CM000671.1:g.80409476C>G GRCh37
NC_000009.10:g.79599296C>G NCBI36
NG_027904.2:g.241744G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.638G>C MANE Select ENSP00000286548.4:p.Arg213Thr
ENST00000286548.8:c.638G>C ENSP00000286548.4:p.Arg213Thr
NM_002072.4:c.638G>C NP_002063.2:p.Arg213Thr
XM_017014628.2:c.464G>C XP_016870117.1:p.Arg155Thr
NM_002072.5:c.638G>C MANE Select NP_002063.2:p.Arg213Thr
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