Canonical Allele Identifier: CA396891395

Gene: GAN

Linked Data

• ClinVar Variation Id: 1386764
• ClinVar RCV Id: RCV001875389
• dbSNP Id: rs1713848888
• MyVariant Identifiers: chr16:g.81399023A>T (hg19) ; chr16:g.81365418A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365418A>T , CM000678.2:g.81365418A>T	GRCh38
NC_000016.9:g.81399023A>T , CM000678.1:g.81399023A>T	GRCh37
NC_000016.8:g.79956524A>T	NCBI36
NG_009007.1:g.55453A>T , LRG_242:g.55453A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.*1150A>T	ENSP00000498114.1:n.*1150A>T
ENST00000648994.2:c.1442A>T MANE Select	ENSP00000497351.1:p.Asp481Val
ENST00000650388.1:c.976A>T	ENSP00000498081.1:n.976A>T
ENST00000568107.2:c.1442A>T	ENSP00000476795.1:p.Asp481Val
NM_022041.3:c.1442A>T , LRG_242t1:c.1442A>T	NP_071324.1:p.Asp481Val
XM_017023734.1:c.803A>T	XP_016879223.1:p.Asp268Val
NM_001377486.1:c.803A>T	NP_001364415.1:p.Asp268Val
NM_022041.4:c.1442A>T MANE Select	NP_071324.1:p.Asp481Val