Canonical Allele Identifier: CA396867148
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354412T>C , CM000678.2:g.81354412T>C GRCh38
NC_000016.9:g.81388017T>C , CM000678.1:g.81388017T>C GRCh37
NC_000016.8:g.79945518T>C NCBI36
NG_009007.1:g.44447T>C , LRG_242:g.44447T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.175T>C ENSP00000498114.1:p.Ter59Gln
ENST00000648994.2:c.290T>C MANE Select ENSP00000497351.1:p.Leu97Pro
ENST00000650388.1:c.168-2373T>C ENSP00000498081.1:n.168-2373T>C
ENST00000674788.1:n.415T>C
ENST00000568107.2:c.290T>C ENSP00000476795.1:p.Leu97Pro
NM_022041.3:c.290T>C , LRG_242t1:c.290T>C NP_071324.1:p.Leu97Pro
XM_017023734.1:c.-350T>C XP_016879223.1:n.-350T>C
NM_001377486.1:c.-350T>C NP_001364415.1:n.-350T>C
NM_022041.4:c.290T>C MANE Select NP_071324.1:p.Leu97Pro