Canonical Allele Identifier: CA396869577
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354757T>G , CM000678.2:g.81354757T>G GRCh38
NC_000016.9:g.81388362T>G , CM000678.1:g.81388362T>G GRCh37
NC_000016.8:g.79945863T>G NCBI36
NG_009007.1:g.44792T>G , LRG_242:g.44792T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*341+2T>G ENSP00000498114.1:n.*341+2T>G
ENST00000648994.2:c.633+2T>G MANE Select ENSP00000497351.1:n.633+2T>G
ENST00000650388.1:c.168-2028T>G ENSP00000498081.1:n.168-2028T>G
ENST00000674788.1:n.760T>G
ENST00000568107.2:c.633+2T>G ENSP00000476795.1:n.633+2T>G
NM_022041.3:c.633+2T>G , LRG_242t1:c.633+2T>G NP_071324.1:n.633+2T>G
XM_017023734.1:c.-7+2T>G XP_016879223.1:n.-7+2T>G
NM_001377486.1:c.-7+2T>G NP_001364415.1:n.-7+2T>G
NM_022041.4:c.633+2T>G MANE Select NP_071324.1:n.633+2T>G