Canonical Allele Identifier: CA496795094

Gene: GAN

Linked Data

• ClinVar Variation Id: 1104299
• ClinVar RCV Id: RCV001428312
• dbSNP Id: rs771476213
• gnomAD v2: 16-81388132-T-A
• gnomAD v3: 16-81354527-T-A
• gnomAD v4: 16-81354527-T-A
• MyVariant Identifiers: chr16:g.81388132T>A (hg19) ; chr16:g.81354527T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354527T>A , CM000678.2:g.81354527T>A	GRCh38
NC_000016.9:g.81388132T>A , CM000678.1:g.81388132T>A	GRCh37
NC_000016.8:g.79945633T>A	NCBI36
NG_009007.1:g.44562T>A , LRG_242:g.44562T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*113T>A	ENSP00000498114.1:n.*113T>A
ENST00000648994.2:c.405T>A MANE Select	ENSP00000497351.1:p.Ile135=
ENST00000650388.1:c.168-2258T>A	ENSP00000498081.1:n.168-2258T>A
ENST00000674788.1:n.530T>A
ENST00000568107.2:c.405T>A	ENSP00000476795.1:p.Ile135=
NM_022041.3:c.405T>A , LRG_242t1:c.405T>A	NP_071324.1:p.Ile135=
XM_017023734.1:c.-235T>A	XP_016879223.1:n.-235T>A
NM_001377486.1:c.-235T>A	NP_001364415.1:n.-235T>A
NM_022041.4:c.405T>A MANE Select	NP_071324.1:p.Ile135=