Canonical Allele Identifier: CA396891532

Gene: GAN

Linked Data

• ClinVar Variation Id: 465389
• ClinVar RCV Id: RCV000542728 ; RCV002287422
• dbSNP Id: rs1555511978
• MyVariant Identifiers: chr16:g.81399084G>T (hg19) ; chr16:g.81365479G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365479G>T , CM000678.2:g.81365479G>T	GRCh38
NC_000016.9:g.81399084G>T , CM000678.1:g.81399084G>T	GRCh37
NC_000016.8:g.79956585G>T	NCBI36
NG_009007.1:g.55514G>T , LRG_242:g.55514G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*1210+1G>T	ENSP00000498114.1:n.*1210+1G>T
ENST00000648994.2:c.1502+1G>T MANE Select	ENSP00000497351.1:n.1502+1G>T
ENST00000650388.1:c.1036+1G>T	ENSP00000498081.1:n.1036+1G>T
ENST00000567335.1:n.60+1G>T
ENST00000568107.2:c.1502+1G>T	ENSP00000476795.1:n.1502+1G>T
NM_022041.3:c.1502+1G>T , LRG_242t1:c.1502+1G>T	NP_071324.1:n.1502+1G>T
XM_017023734.1:c.863+1G>T	XP_016879223.1:n.863+1G>T
NM_001377486.1:c.863+1G>T	NP_001364415.1:n.863+1G>T
NM_022041.4:c.1502+1G>T MANE Select	NP_071324.1:n.1502+1G>T