Canonical Allele Identifier: CA373997752
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118443563
MyVariant Identifiers: chr9:g.80409433C>G (hg19) chr9:g.77794517C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794517C>G , CM000671.2:g.77794517C>G GRCh38
NC_000009.11:g.80409433C>G , CM000671.1:g.80409433C>G GRCh37
NC_000009.10:g.79599253C>G NCBI36
NG_027904.2:g.241787G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.681G>C MANE Select ENSP00000286548.4:p.Met227Ile
ENST00000286548.8:c.681G>C ENSP00000286548.4:p.Met227Ile
NM_002072.4:c.681G>C NP_002063.2:p.Met227Ile
XM_017014628.2:c.507G>C XP_016870117.1:p.Met169Ile
NM_002072.5:c.681G>C MANE Select NP_002063.2:p.Met227Ile
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