Canonical Allele Identifier: CA396868854

Gene: GAN

Linked Data

• dbSNP Id: rs768074318
• MyVariant Identifiers: chr16:g.81388265G>T (hg19) ; chr16:g.81354660G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354660G>T , CM000678.2:g.81354660G>T	GRCh38
NC_000016.9:g.81388265G>T , CM000678.1:g.81388265G>T	GRCh37
NC_000016.8:g.79945766G>T	NCBI36
NG_009007.1:g.44695G>T , LRG_242:g.44695G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*246G>T	ENSP00000498114.1:n.*246G>T
ENST00000648994.2:c.538G>T MANE Select	ENSP00000497351.1:p.Glu180Ter
ENST00000650388.1:c.168-2125G>T	ENSP00000498081.1:n.168-2125G>T
ENST00000674788.1:n.663G>T
ENST00000568107.2:c.538G>T	ENSP00000476795.1:p.Glu180Ter
NM_022041.3:c.538G>T , LRG_242t1:c.538G>T	NP_071324.1:p.Glu180Ter
XM_017023734.1:c.-102G>T	XP_016879223.1:n.-102G>T
NM_001377486.1:c.-102G>T	NP_001364415.1:n.-102G>T
NM_022041.4:c.538G>T MANE Select	NP_071324.1:p.Glu180Ter