Canonical Allele Identifier: CA8191814
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 533937
dbSNP Id: rs141592516

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81377309T>G , CM000678.2:g.81377309T>G GRCh38
NC_000016.9:g.81410914T>G , CM000678.1:g.81410914T>G GRCh37
NC_000016.8:g.79968415T>G NCBI36
NG_009007.1:g.67344T>G , LRG_242:g.67344T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000648349.2:c.*1301T>G ENSP00000498114.1:n.*1301T>G
ENST00000648994.2:c.1593T>G MANE Select ENSP00000497351.1:p.Val531=
ENST00000650388.1:c.1127T>G ENSP00000498081.1:n.1127T>G
ENST00000568107.2:c.1593T>G ENSP00000476795.1:p.Val531=
NM_022041.3:c.1593T>G , LRG_242t1:c.1593T>G NP_071324.1:p.Val531=
XM_017023734.1:c.954T>G XP_016879223.1:p.Val318=
NM_001377486.1:c.954T>G NP_001364415.1:p.Val318=
NM_022041.4:c.1593T>G MANE Select NP_071324.1:p.Val531=