Canonical Allele Identifier: CA1857429351
Gene: GNAQ HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794469G= , CM000671.2:g.77794469G= GRCh38
NC_000009.11:g.80409385G= , CM000671.1:g.80409385G= GRCh37
NC_000009.10:g.79599205G= NCBI36
NG_027904.2:g.241835C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.729C= MANE Select ENSP00000286548.4:p.Asp243=
ENST00000286548.8:c.729C= ENSP00000286548.4:p.Asp243=
NM_002072.4:c.729C= NP_002063.2:p.Asp243=
XM_017014628.2:c.555C= XP_016870117.1:p.Asp185=
NM_002072.5:c.729C= MANE Select NP_002063.2:p.Asp243=
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