Canonical Allele Identifier: CA465578317
Gene: GNAQ HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.80409439A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794523A>C , CM000671.2:g.77794523A>C GRCh38
NC_000009.11:g.80409439A>C , CM000671.1:g.80409439A>C GRCh37
NC_000009.10:g.79599259A>C NCBI36
NG_027904.2:g.241781T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.675T>G MANE Select ENSP00000286548.4:p.Ser225=
ENST00000286548.8:c.675T>G ENSP00000286548.4:p.Ser225=
NM_002072.4:c.675T>G NP_002063.2:p.Ser225=
XM_017014628.2:c.501T>G XP_016870117.1:p.Ser167=
NM_002072.5:c.675T>G MANE Select NP_002063.2:p.Ser225=
Search 100 bp 5'
Search 100 bp 3'