Canonical Allele Identifier: CA396868973
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354681T>G , CM000678.2:g.81354681T>G GRCh38
NC_000016.9:g.81388286T>G , CM000678.1:g.81388286T>G GRCh37
NC_000016.8:g.79945787T>G NCBI36
NG_009007.1:g.44716T>G , LRG_242:g.44716T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*267T>G ENSP00000498114.1:n.*267T>G
ENST00000648994.2:c.559T>G MANE Select ENSP00000497351.1:p.Leu187Val
ENST00000650388.1:c.168-2104T>G ENSP00000498081.1:n.168-2104T>G
ENST00000674788.1:n.684T>G
ENST00000568107.2:c.559T>G ENSP00000476795.1:p.Leu187Val
NM_022041.3:c.559T>G , LRG_242t1:c.559T>G NP_071324.1:p.Leu187Val
XM_017023734.1:c.-81T>G XP_016879223.1:n.-81T>G
NM_001377486.1:c.-81T>G NP_001364415.1:n.-81T>G
NM_022041.4:c.559T>G MANE Select NP_071324.1:p.Leu187Val