Canonical Allele Identifier: CA270932

Gene: GAN

Linked Data

• ClinVar Variation Id: 157527
• ClinVar RCV Id: RCV000144871 ; RCV000295442 ; RCV000859286 ; RCV002381452
• dbSNP Id: rs200749953
• ExAC: 16:81390486 A / G
• gnomAD v2: 16-81390486-A-G
• gnomAD v3: 16-81356881-A-G
• gnomAD v4: 16-81356881-A-G
• MyVariant Identifiers: chr16:g.81390486A>G (hg19) ; chr16:g.81356881A>G (hg38)
• PubMed: PMID:4306395 ; PMID:25025039

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81356881A>G , CM000678.2:g.81356881A>G	GRCh38
NC_000016.9:g.81390486A>G , CM000678.1:g.81390486A>G	GRCh37
NC_000016.8:g.79947987A>G	NCBI36
NG_009007.1:g.46916A>G , LRG_242:g.46916A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*438A>G	ENSP00000498114.1:n.*438A>G
ENST00000648994.2:c.730A>G MANE Select	ENSP00000497351.1:p.Ile244Val
ENST00000650388.1:c.264A>G	ENSP00000498081.1:n.264A>G
ENST00000568107.2:c.730A>G	ENSP00000476795.1:p.Ile244Val
NM_022041.3:c.730A>G , LRG_242t1:c.730A>G	NP_071324.1:p.Ile244Val
XM_017023734.1:c.91A>G	XP_016879223.1:p.Ile31Val
NM_001377486.1:c.91A>G	NP_001364415.1:p.Ile31Val
NM_022041.4:c.730A>G MANE Select	NP_071324.1:p.Ile244Val