Canonical Allele Identifier: CA396891404

Gene: GAN

Linked Data

• dbSNP Id: rs1413342675
• gnomAD v2: 16-81399029-A-G
• gnomAD v3: 16-81365424-A-G
• gnomAD v4: 16-81365424-A-G
• MyVariant Identifiers: chr16:g.81399029A>G (hg19) ; chr16:g.81365424A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365424A>G , CM000678.2:g.81365424A>G	GRCh38
NC_000016.9:g.81399029A>G , CM000678.1:g.81399029A>G	GRCh37
NC_000016.8:g.79956530A>G	NCBI36
NG_009007.1:g.55459A>G , LRG_242:g.55459A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.*1156A>G	ENSP00000498114.1:n.*1156A>G
ENST00000648994.2:c.1448A>G MANE Select	ENSP00000497351.1:p.Gln483Arg
ENST00000650388.1:c.982A>G	ENSP00000498081.1:n.982A>G
ENST00000567335.1:n.6A>G
ENST00000568107.2:c.1448A>G	ENSP00000476795.1:p.Gln483Arg
NM_022041.3:c.1448A>G , LRG_242t1:c.1448A>G	NP_071324.1:p.Gln483Arg
XM_017023734.1:c.809A>G	XP_016879223.1:p.Gln270Arg
NM_001377486.1:c.809A>G	NP_001364415.1:p.Gln270Arg
NM_022041.4:c.1448A>G MANE Select	NP_071324.1:p.Gln483Arg