Canonical Allele Identifier: CA284270273

Gene: GAN

Linked Data

• dbSNP Id: rs564079455
• gnomAD v3: 16-81365534-G-A
• gnomAD v4: 16-81365534-G-A
• MyVariant Identifiers: chr16:g.81399139G>A (hg19) ; chr16:g.81365534G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365534G>A , CM000678.2:g.81365534G>A	GRCh38
NC_000016.9:g.81399139G>A , CM000678.1:g.81399139G>A	GRCh37
NC_000016.8:g.79956640G>A	NCBI36
NG_009007.1:g.55569G>A , LRG_242:g.55569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*1210+56G>A	ENSP00000498114.1:n.*1210+56G>A
ENST00000648994.2:c.1502+56G>A MANE Select	ENSP00000497351.1:n.1502+56G>A
ENST00000650388.1:c.1036+56G>A	ENSP00000498081.1:n.1036+56G>A
ENST00000567335.1:n.60+56G>A
ENST00000568107.2:c.1502+56G>A	ENSP00000476795.1:n.1502+56G>A
NM_022041.3:c.1502+56G>A , LRG_242t1:c.1502+56G>A	NP_071324.1:n.1502+56G>A
XM_017023734.1:c.863+56G>A	XP_016879223.1:n.863+56G>A
NM_001377486.1:c.863+56G>A	NP_001364415.1:n.863+56G>A
NM_022041.4:c.1502+56G>A MANE Select	NP_071324.1:n.1502+56G>A