Canonical Allele Identifier: CA396891336
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365390G>C , CM000678.2:g.81365390G>C GRCh38
NC_000016.9:g.81398995G>C , CM000678.1:g.81398995G>C GRCh37
NC_000016.8:g.79956496G>C NCBI36
NG_009007.1:g.55425G>C , LRG_242:g.55425G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*1122G>C ENSP00000498114.1:n.*1122G>C
ENST00000648994.2:c.1414G>C MANE Select ENSP00000497351.1:p.Val472Leu
ENST00000650388.1:c.948G>C ENSP00000498081.1:n.948G>C
ENST00000568107.2:c.1414G>C ENSP00000476795.1:p.Val472Leu
NM_022041.3:c.1414G>C , LRG_242t1:c.1414G>C NP_071324.1:p.Val472Leu
XM_017023734.1:c.775G>C XP_016879223.1:p.Val259Leu
NM_001377486.1:c.775G>C NP_001364415.1:p.Val259Leu
NM_022041.4:c.1414G>C MANE Select NP_071324.1:p.Val472Leu