Canonical Allele Identifier: CA2528134403
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354832T>A , CM000678.2:g.81354832T>A GRCh38
NC_000016.9:g.81388437T>A , CM000678.1:g.81388437T>A GRCh37
NC_000016.8:g.79945938T>A NCBI36
NG_009007.1:g.44867T>A , LRG_242:g.44867T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*341+77T>A ENSP00000498114.1:n.*341+77T>A
ENST00000648994.2:c.633+77T>A MANE Select ENSP00000497351.1:n.633+77T>A
ENST00000650388.1:c.168-1953T>A ENSP00000498081.1:n.168-1953T>A
ENST00000674788.1:n.835T>A
ENST00000568107.2:c.633+77T>A ENSP00000476795.1:n.633+77T>A
NM_022041.3:c.633+77T>A , LRG_242t1:c.633+77T>A NP_071324.1:n.633+77T>A
XM_017023734.1:c.-7+77T>A XP_016879223.1:n.-7+77T>A
NM_001377486.1:c.-7+77T>A NP_001364415.1:n.-7+77T>A
NM_022041.4:c.633+77T>A MANE Select NP_071324.1:n.633+77T>A