Canonical Allele Identifier: CA396869088

Gene: GAN

Linked Data

• dbSNP Id: rs1432344872
• MyVariant Identifiers: chr16:g.81388310G>A (hg19) ; chr16:g.81354705G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354705G>A , CM000678.2:g.81354705G>A	GRCh38
NC_000016.9:g.81388310G>A , CM000678.1:g.81388310G>A	GRCh37
NC_000016.8:g.79945811G>A	NCBI36
NG_009007.1:g.44740G>A , LRG_242:g.44740G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*291G>A	ENSP00000498114.1:n.*291G>A
ENST00000648994.2:c.583G>A MANE Select	ENSP00000497351.1:p.Val195Ile
ENST00000650388.1:c.168-2080G>A	ENSP00000498081.1:n.168-2080G>A
ENST00000674788.1:n.708G>A
ENST00000568107.2:c.583G>A	ENSP00000476795.1:p.Val195Ile
NM_022041.3:c.583G>A , LRG_242t1:c.583G>A	NP_071324.1:p.Val195Ile
XM_017023734.1:c.-57G>A	XP_016879223.1:n.-57G>A
NM_001377486.1:c.-57G>A	NP_001364415.1:n.-57G>A
NM_022041.4:c.583G>A MANE Select	NP_071324.1:p.Val195Ile