Canonical Allele Identifier: CA253400

Gene: GAN

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354535G>A , CM000678.2:g.81354535G>A	GRCh38
NC_000016.9:g.81388140G>A , CM000678.1:g.81388140G>A	GRCh37
NC_000016.8:g.79945641G>A	NCBI36
NG_009007.1:g.44570G>A , LRG_242:g.44570G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*121G>A	ENSP00000498114.1:n.*121G>A
ENST00000648994.2:c.413G>A MANE Select	ENSP00000497351.1:p.Arg138His
ENST00000650388.1:c.168-2250G>A	ENSP00000498081.1:n.168-2250G>A
ENST00000674788.1:n.538G>A
ENST00000568107.2:c.413G>A	ENSP00000476795.1:p.Arg138His
NM_022041.3:c.413G>A , LRG_242t1:c.413G>A	NP_071324.1:p.Arg138His
XM_017023734.1:c.-227G>A	XP_016879223.1:n.-227G>A
NM_001377486.1:c.-227G>A	NP_001364415.1:n.-227G>A
NM_022041.4:c.413G>A MANE Select	NP_071324.1:p.Arg138His