Canonical Allele Identifier: CA373997729
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118443410
MyVariant Identifiers: chr9:g.80409423C>A (hg19) chr9:g.77794507C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794507C>A , CM000671.2:g.77794507C>A GRCh38
NC_000009.11:g.80409423C>A , CM000671.1:g.80409423C>A GRCh37
NC_000009.10:g.79599243C>A NCBI36
NG_027904.2:g.241797G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.691G>T MANE Select ENSP00000286548.4:p.Ala231Ser
ENST00000286548.8:c.691G>T ENSP00000286548.4:p.Ala231Ser
NM_002072.4:c.691G>T NP_002063.2:p.Ala231Ser
XM_017014628.2:c.517G>T XP_016870117.1:p.Ala173Ser
NM_002072.5:c.691G>T MANE Select NP_002063.2:p.Ala231Ser
Search 100 bp 5'
Search 100 bp 3'