Canonical Allele Identifier: CA396869423
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354739A>T , CM000678.2:g.81354739A>T GRCh38
NC_000016.9:g.81388344A>T , CM000678.1:g.81388344A>T GRCh37
NC_000016.8:g.79945845A>T NCBI36
NG_009007.1:g.44774A>T , LRG_242:g.44774A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*325A>T ENSP00000498114.1:n.*325A>T
ENST00000648994.2:c.617A>T MANE Select ENSP00000497351.1:p.Asp206Val
ENST00000650388.1:c.168-2046A>T ENSP00000498081.1:n.168-2046A>T
ENST00000674788.1:n.742A>T
ENST00000568107.2:c.617A>T ENSP00000476795.1:p.Asp206Val
NM_022041.3:c.617A>T , LRG_242t1:c.617A>T NP_071324.1:p.Asp206Val
XM_017023734.1:c.-23A>T XP_016879223.1:n.-23A>T
NM_001377486.1:c.-23A>T NP_001364415.1:n.-23A>T
NM_022041.4:c.617A>T MANE Select NP_071324.1:p.Asp206Val