Canonical Allele Identifier: CA396868971

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81388286T>A (hg19) ; chr16:g.81354681T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354681T>A , CM000678.2:g.81354681T>A	GRCh38
NC_000016.9:g.81388286T>A , CM000678.1:g.81388286T>A	GRCh37
NC_000016.8:g.79945787T>A	NCBI36
NG_009007.1:g.44716T>A , LRG_242:g.44716T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*267T>A	ENSP00000498114.1:n.*267T>A
ENST00000648994.2:c.559T>A MANE Select	ENSP00000497351.1:p.Leu187Ile
ENST00000650388.1:c.168-2104T>A	ENSP00000498081.1:n.168-2104T>A
ENST00000674788.1:n.684T>A
ENST00000568107.2:c.559T>A	ENSP00000476795.1:p.Leu187Ile
NM_022041.3:c.559T>A , LRG_242t1:c.559T>A	NP_071324.1:p.Leu187Ile
XM_017023734.1:c.-81T>A	XP_016879223.1:n.-81T>A
NM_001377486.1:c.-81T>A	NP_001364415.1:n.-81T>A
NM_022041.4:c.559T>A MANE Select	NP_071324.1:p.Leu187Ile