Canonical Allele Identifier: CA8191351

Gene: GAN

Linked Data

• ClinVar Variation Id: 1116260
• ClinVar RCV Id: RCV001444592
• dbSNP Id: rs753122436
• ExAC: 16:81388060 G / A
• gnomAD v2: 16-81388060-G-A
• gnomAD v4: 16-81354455-G-A
• MyVariant Identifiers: chr16:g.81388060G>A (hg19) ; chr16:g.81354455G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354455G>A , CM000678.2:g.81354455G>A	GRCh38
NC_000016.9:g.81388060G>A , CM000678.1:g.81388060G>A	GRCh37
NC_000016.8:g.79945561G>A	NCBI36
NG_009007.1:g.44490G>A , LRG_242:g.44490G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.*41G>A	ENSP00000498114.1:n.*41G>A
ENST00000648994.2:c.333G>A MANE Select	ENSP00000497351.1:p.Leu111=
ENST00000650388.1:c.168-2330G>A	ENSP00000498081.1:n.168-2330G>A
ENST00000674788.1:n.458G>A
ENST00000568107.2:c.333G>A	ENSP00000476795.1:p.Leu111=
NM_022041.3:c.333G>A , LRG_242t1:c.333G>A	NP_071324.1:p.Leu111=
XM_017023734.1:c.-307G>A	XP_016879223.1:n.-307G>A
NM_001377486.1:c.-307G>A	NP_001364415.1:n.-307G>A
NM_022041.4:c.333G>A MANE Select	NP_071324.1:p.Leu111=