Canonical Allele Identifier: CA396891394

Gene: GAN

Linked Data

• ClinVar Variation Id: 1494241
• ClinVar RCV Id: RCV001987096
• dbSNP Id: rs1713848888
• gnomAD v4: 16-81365418-A-G
• MyVariant Identifiers: chr16:g.81399023A>G (hg19) ; chr16:g.81365418A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365418A>G , CM000678.2:g.81365418A>G	GRCh38
NC_000016.9:g.81399023A>G , CM000678.1:g.81399023A>G	GRCh37
NC_000016.8:g.79956524A>G	NCBI36
NG_009007.1:g.55453A>G , LRG_242:g.55453A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.*1150A>G	ENSP00000498114.1:n.*1150A>G
ENST00000648994.2:c.1442A>G MANE Select	ENSP00000497351.1:p.Asp481Gly
ENST00000650388.1:c.976A>G	ENSP00000498081.1:n.976A>G
ENST00000568107.2:c.1442A>G	ENSP00000476795.1:p.Asp481Gly
NM_022041.3:c.1442A>G , LRG_242t1:c.1442A>G	NP_071324.1:p.Asp481Gly
XM_017023734.1:c.803A>G	XP_016879223.1:p.Asp268Gly
NM_001377486.1:c.803A>G	NP_001364415.1:p.Asp268Gly
NM_022041.4:c.1442A>G MANE Select	NP_071324.1:p.Asp481Gly