Canonical Allele Identifier: CA496698972

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81391535A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357930A>C , CM000678.2:g.81357930A>C	GRCh38
NC_000016.9:g.81391535A>C , CM000678.1:g.81391535A>C	GRCh37
NC_000016.8:g.79949036A>C	NCBI36
NG_009007.1:g.47965A>C , LRG_242:g.47965A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*680A>C	ENSP00000498114.1:n.*680A>C
ENST00000648994.2:c.972A>C MANE Select	ENSP00000497351.1:p.Ala324=
ENST00000650388.1:c.506A>C	ENSP00000498081.1:n.506A>C
ENST00000568107.2:c.972A>C	ENSP00000476795.1:p.Ala324=
NM_022041.3:c.972A>C , LRG_242t1:c.972A>C	NP_071324.1:p.Ala324=
XM_017023734.1:c.333A>C	XP_016879223.1:p.Ala111=
NM_001377486.1:c.333A>C	NP_001364415.1:p.Ala111=
NM_022041.4:c.972A>C MANE Select	NP_071324.1:p.Ala324=