Canonical Allele Identifier: CA2237033370
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354722T= , CM000678.2:g.81354722T= GRCh38
NC_000016.9:g.81388327T= , CM000678.1:g.81388327T= GRCh37
NC_000016.8:g.79945828T= NCBI36
NG_009007.1:g.44757T= , LRG_242:g.44757T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*308T= ENSP00000498114.1:n.*308T=
ENST00000648994.2:c.600T= MANE Select ENSP00000497351.1:p.Ile200=
ENST00000650388.1:c.168-2063T= ENSP00000498081.1:n.168-2063T=
ENST00000674788.1:n.725T=
ENST00000568107.2:c.600T= ENSP00000476795.1:p.Ile200=
NM_022041.3:c.600T= , LRG_242t1:c.600T= NP_071324.1:p.Ile200=
XM_017023734.1:c.-40T= XP_016879223.1:n.-40T=
NM_001377486.1:c.-40T= NP_001364415.1:n.-40T=
NM_022041.4:c.600T= MANE Select NP_071324.1:p.Ile200=