Canonical Allele Identifier: CA396868408
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs1910422693

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354570C>T , CM000678.2:g.81354570C>T GRCh38
NC_000016.9:g.81388175C>T , CM000678.1:g.81388175C>T GRCh37
NC_000016.8:g.79945676C>T NCBI36
NG_009007.1:g.44605C>T , LRG_242:g.44605C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*156C>T ENSP00000498114.1:n.*156C>T
ENST00000648994.2:c.448C>T MANE Select ENSP00000497351.1:p.His150Tyr
ENST00000650388.1:c.168-2215C>T ENSP00000498081.1:n.168-2215C>T
ENST00000674788.1:n.573C>T
ENST00000568107.2:c.448C>T ENSP00000476795.1:p.His150Tyr
NM_022041.3:c.448C>T , LRG_242t1:c.448C>T NP_071324.1:p.His150Tyr
XM_017023734.1:c.-192C>T XP_016879223.1:n.-192C>T
NM_001377486.1:c.-192C>T NP_001364415.1:n.-192C>T
NM_022041.4:c.448C>T MANE Select NP_071324.1:p.His150Tyr