Canonical Allele Identifier: CA396873072

Gene: GAN

Linked Data

• dbSNP Id: rs922025345
• gnomAD v2: 16-81391420-G-T
• gnomAD v4: 16-81357815-G-T
• MyVariant Identifiers: chr16:g.81391420G>T (hg19) ; chr16:g.81357815G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357815G>T , CM000678.2:g.81357815G>T	GRCh38
NC_000016.9:g.81391420G>T , CM000678.1:g.81391420G>T	GRCh37
NC_000016.8:g.79948921G>T	NCBI36
NG_009007.1:g.47850G>T , LRG_242:g.47850G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*565G>T	ENSP00000498114.1:n.*565G>T
ENST00000648994.2:c.857G>T MANE Select	ENSP00000497351.1:p.Arg286Leu
ENST00000650388.1:c.391G>T	ENSP00000498081.1:n.391G>T
ENST00000568107.2:c.857G>T	ENSP00000476795.1:p.Arg286Leu
NM_022041.3:c.857G>T , LRG_242t1:c.857G>T	NP_071324.1:p.Arg286Leu
XM_017023734.1:c.218G>T	XP_016879223.1:p.Arg73Leu
NM_001377486.1:c.218G>T	NP_001364415.1:p.Arg73Leu
NM_022041.4:c.857G>T MANE Select	NP_071324.1:p.Arg286Leu