Canonical Allele Identifier: CA396867835
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354497G>T , CM000678.2:g.81354497G>T GRCh38
NC_000016.9:g.81388102G>T , CM000678.1:g.81388102G>T GRCh37
NC_000016.8:g.79945603G>T NCBI36
NG_009007.1:g.44532G>T , LRG_242:g.44532G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*83G>T ENSP00000498114.1:n.*83G>T
ENST00000648994.2:c.375G>T MANE Select ENSP00000497351.1:p.Leu125Phe
ENST00000650388.1:c.168-2288G>T ENSP00000498081.1:n.168-2288G>T
ENST00000674788.1:n.500G>T
ENST00000568107.2:c.375G>T ENSP00000476795.1:p.Leu125Phe
NM_022041.3:c.375G>T , LRG_242t1:c.375G>T NP_071324.1:p.Leu125Phe
XM_017023734.1:c.-265G>T XP_016879223.1:n.-265G>T
NM_001377486.1:c.-265G>T NP_001364415.1:n.-265G>T
NM_022041.4:c.375G>T MANE Select NP_071324.1:p.Leu125Phe