Canonical Allele Identifier: CA396891422

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81399038A>C (hg19) ; chr16:g.81365433A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365433A>C , CM000678.2:g.81365433A>C	GRCh38
NC_000016.9:g.81399038A>C , CM000678.1:g.81399038A>C	GRCh37
NC_000016.8:g.79956539A>C	NCBI36
NG_009007.1:g.55468A>C , LRG_242:g.55468A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.*1165A>C	ENSP00000498114.1:n.*1165A>C
ENST00000648994.2:c.1457A>C MANE Select	ENSP00000497351.1:p.Glu486Ala
ENST00000650388.1:c.991A>C	ENSP00000498081.1:n.991A>C
ENST00000567335.1:n.15A>C
ENST00000568107.2:c.1457A>C	ENSP00000476795.1:p.Glu486Ala
NM_022041.3:c.1457A>C , LRG_242t1:c.1457A>C	NP_071324.1:p.Glu486Ala
XM_017023734.1:c.818A>C	XP_016879223.1:p.Glu273Ala
NM_001377486.1:c.818A>C	NP_001364415.1:p.Glu273Ala
NM_022041.4:c.1457A>C MANE Select	NP_071324.1:p.Glu486Ala