Canonical Allele Identifier: CA396873474

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81391497T>A (hg19) ; chr16:g.81357892T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357892T>A , CM000678.2:g.81357892T>A	GRCh38
NC_000016.9:g.81391497T>A , CM000678.1:g.81391497T>A	GRCh37
NC_000016.8:g.79948998T>A	NCBI36
NG_009007.1:g.47927T>A , LRG_242:g.47927T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*642T>A	ENSP00000498114.1:n.*642T>A
ENST00000648994.2:c.934T>A MANE Select	ENSP00000497351.1:p.Leu312Ile
ENST00000650388.1:c.468T>A	ENSP00000498081.1:n.468T>A
ENST00000568107.2:c.934T>A	ENSP00000476795.1:p.Leu312Ile
NM_022041.3:c.934T>A , LRG_242t1:c.934T>A	NP_071324.1:p.Leu312Ile
XM_017023734.1:c.295T>A	XP_016879223.1:p.Leu99Ile
NM_001377486.1:c.295T>A	NP_001364415.1:p.Leu99Ile
NM_022041.4:c.934T>A MANE Select	NP_071324.1:p.Leu312Ile