Canonical Allele Identifier: CA2237042508
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81357884T= , CM000678.2:g.81357884T= GRCh38
NC_000016.9:g.81391489T= , CM000678.1:g.81391489T= GRCh37
NC_000016.8:g.79948990T= NCBI36
NG_009007.1:g.47919T= , LRG_242:g.47919T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*634T= ENSP00000498114.1:n.*634T=
ENST00000648994.2:c.926T= MANE Select ENSP00000497351.1:p.Leu309=
ENST00000650388.1:c.460T= ENSP00000498081.1:n.460T=
ENST00000568107.2:c.926T= ENSP00000476795.1:p.Leu309=
NM_022041.3:c.926T= , LRG_242t1:c.926T= NP_071324.1:p.Leu309=
XM_017023734.1:c.287T= XP_016879223.1:p.Leu96=
NM_001377486.1:c.287T= NP_001364415.1:p.Leu96=
NM_022041.4:c.926T= MANE Select NP_071324.1:p.Leu309=