Canonical Allele Identifier: CA8191542
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 533938
dbSNP Id: rs139230642

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81357903G>A , CM000678.2:g.81357903G>A GRCh38
NC_000016.9:g.81391508G>A , CM000678.1:g.81391508G>A GRCh37
NC_000016.8:g.79949009G>A NCBI36
NG_009007.1:g.47938G>A , LRG_242:g.47938G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000648349.2:c.*653G>A ENSP00000498114.1:n.*653G>A
ENST00000648994.2:c.945G>A MANE Select ENSP00000497351.1:p.Pro315=
ENST00000650388.1:c.479G>A ENSP00000498081.1:n.479G>A
ENST00000568107.2:c.945G>A ENSP00000476795.1:p.Pro315=
NM_022041.3:c.945G>A , LRG_242t1:c.945G>A NP_071324.1:p.Pro315=
XM_017023734.1:c.306G>A XP_016879223.1:p.Pro102=
NM_001377486.1:c.306G>A NP_001364415.1:p.Pro102=
NM_022041.4:c.945G>A MANE Select NP_071324.1:p.Pro315=