Canonical Allele Identifier: CA2547195125
Gene: GNAQ HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794119A>G , CM000671.2:g.77794119A>G GRCh38
NC_000009.11:g.80409035A>G , CM000671.1:g.80409035A>G GRCh37
NC_000009.10:g.79598855A>G NCBI36
NG_027904.2:g.242185T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+344T>C MANE Select ENSP00000286548.4:n.735+344T>C
ENST00000286548.8:c.735+344T>C ENSP00000286548.4:n.735+344T>C
NM_002072.4:c.735+344T>C NP_002063.2:n.735+344T>C
XM_017014628.2:c.561+344T>C XP_016870117.1:n.561+344T>C
NM_002072.5:c.735+344T>C MANE Select NP_002063.2:n.735+344T>C
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