Canonical Allele Identifier: CA396867621
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354471C>A , CM000678.2:g.81354471C>A GRCh38
NC_000016.9:g.81388076C>A , CM000678.1:g.81388076C>A GRCh37
NC_000016.8:g.79945577C>A NCBI36
NG_009007.1:g.44506C>A , LRG_242:g.44506C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*57C>A ENSP00000498114.1:n.*57C>A
ENST00000648994.2:c.349C>A MANE Select ENSP00000497351.1:p.Leu117Ile
ENST00000650388.1:c.168-2314C>A ENSP00000498081.1:n.168-2314C>A
ENST00000674788.1:n.474C>A
ENST00000568107.2:c.349C>A ENSP00000476795.1:p.Leu117Ile
NM_022041.3:c.349C>A , LRG_242t1:c.349C>A NP_071324.1:p.Leu117Ile
XM_017023734.1:c.-291C>A XP_016879223.1:n.-291C>A
NM_001377486.1:c.-291C>A NP_001364415.1:n.-291C>A
NM_022041.4:c.349C>A MANE Select NP_071324.1:p.Leu117Ile