Canonical Allele Identifier: CA396891273

Gene: GAN

Linked Data

• ClinVar Variation Id: 533932
• ClinVar RCV Id: RCV000641259
• dbSNP Id: rs753748994
• MyVariant Identifiers: chr16:g.81398963C>A (hg19) ; chr16:g.81365358C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365358C>A , CM000678.2:g.81365358C>A	GRCh38
NC_000016.9:g.81398963C>A , CM000678.1:g.81398963C>A	GRCh37
NC_000016.8:g.79956464C>A	NCBI36
NG_009007.1:g.55393C>A , LRG_242:g.55393C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*1090C>A	ENSP00000498114.1:n.*1090C>A
ENST00000648994.2:c.1382C>A MANE Select	ENSP00000497351.1:p.Ala461Glu
ENST00000650388.1:c.916C>A	ENSP00000498081.1:n.916C>A
ENST00000568107.2:c.1382C>A	ENSP00000476795.1:p.Ala461Glu
NM_022041.3:c.1382C>A , LRG_242t1:c.1382C>A	NP_071324.1:p.Ala461Glu
XM_017023734.1:c.743C>A	XP_016879223.1:p.Ala248Glu
NM_001377486.1:c.743C>A	NP_001364415.1:p.Ala248Glu
NM_022041.4:c.1382C>A MANE Select	NP_071324.1:p.Ala461Glu