Canonical Allele Identifier: CA2732834719
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs2150687776

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81358129G>A , CM000678.2:g.81358129G>A GRCh38
NC_000016.9:g.81391734G>A , CM000678.1:g.81391734G>A GRCh37
NC_000016.8:g.79949235G>A NCBI36
NG_009007.1:g.48164G>A , LRG_242:g.48164G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*681+198G>A ENSP00000498114.1:n.*681+198G>A
ENST00000648994.2:c.973+198G>A MANE Select ENSP00000497351.1:n.973+198G>A
ENST00000650388.1:c.507+198G>A ENSP00000498081.1:n.507+198G>A
ENST00000568107.2:c.973+198G>A ENSP00000476795.1:n.973+198G>A
NM_022041.3:c.973+198G>A , LRG_242t1:c.973+198G>A NP_071324.1:n.973+198G>A
XM_017023734.1:c.334+198G>A XP_016879223.1:n.334+198G>A
NM_001377486.1:c.334+198G>A NP_001364415.1:n.334+198G>A
NM_022041.4:c.973+198G>A MANE Select NP_071324.1:n.973+198G>A