Canonical Allele Identifier: CA396891417

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81399036C>A (hg19) ; chr16:g.81365431C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365431C>A , CM000678.2:g.81365431C>A	GRCh38
NC_000016.9:g.81399036C>A , CM000678.1:g.81399036C>A	GRCh37
NC_000016.8:g.79956537C>A	NCBI36
NG_009007.1:g.55466C>A , LRG_242:g.55466C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.*1163C>A	ENSP00000498114.1:n.*1163C>A
ENST00000648994.2:c.1455C>A MANE Select	ENSP00000497351.1:p.Ser485Arg
ENST00000650388.1:c.989C>A	ENSP00000498081.1:n.989C>A
ENST00000567335.1:n.13C>A
ENST00000568107.2:c.1455C>A	ENSP00000476795.1:p.Ser485Arg
NM_022041.3:c.1455C>A , LRG_242t1:c.1455C>A	NP_071324.1:p.Ser485Arg
XM_017023734.1:c.816C>A	XP_016879223.1:p.Ser272Arg
NM_001377486.1:c.816C>A	NP_001364415.1:p.Ser272Arg
NM_022041.4:c.1455C>A MANE Select	NP_071324.1:p.Ser485Arg