Canonical Allele Identifier: CA284270062

Gene: GAN

Linked Data

• ClinVar Variation Id: 1013104
• ClinVar RCV Id: RCV001311453 ; RCV002071866
• dbSNP Id: rs998119133
• gnomAD v2: 16-81398997-G-A
• gnomAD v3: 16-81365392-G-A
• gnomAD v4: 16-81365392-G-A
• MyVariant Identifiers: chr16:g.81398997G>A (hg19) ; chr16:g.81365392G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365392G>A , CM000678.2:g.81365392G>A	GRCh38
NC_000016.9:g.81398997G>A , CM000678.1:g.81398997G>A	GRCh37
NC_000016.8:g.79956498G>A	NCBI36
NG_009007.1:g.55427G>A , LRG_242:g.55427G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*1124G>A	ENSP00000498114.1:n.*1124G>A
ENST00000648994.2:c.1416G>A MANE Select	ENSP00000497351.1:p.Val472=
ENST00000650388.1:c.950G>A	ENSP00000498081.1:n.950G>A
ENST00000568107.2:c.1416G>A	ENSP00000476795.1:p.Val472=
NM_022041.3:c.1416G>A , LRG_242t1:c.1416G>A	NP_071324.1:p.Val472=
XM_017023734.1:c.777G>A	XP_016879223.1:p.Val259=
NM_001377486.1:c.777G>A	NP_001364415.1:p.Val259=
NM_022041.4:c.1416G>A MANE Select	NP_071324.1:p.Val472=