Canonical Allele Identifier: CA979657923

Gene: GAN

Linked Data

• dbSNP Id: rs1597403507
• gnomAD v3: 16-81358147-G-T
• gnomAD v4: 16-81358147-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81358147G>T , CM000678.2:g.81358147G>T	GRCh38
NC_000016.9:g.81391752G>T , CM000678.1:g.81391752G>T	GRCh37
NC_000016.8:g.79949253G>T	NCBI36
NG_009007.1:g.48182G>T , LRG_242:g.48182G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*681+216G>T	ENSP00000498114.1:n.*681+216G>T
ENST00000648994.2:c.973+216G>T MANE Select	ENSP00000497351.1:n.973+216G>T
ENST00000650388.1:c.507+216G>T	ENSP00000498081.1:n.507+216G>T
ENST00000568107.2:c.973+216G>T	ENSP00000476795.1:n.973+216G>T
NM_022041.3:c.973+216G>T , LRG_242t1:c.973+216G>T	NP_071324.1:n.973+216G>T
XM_017023734.1:c.334+216G>T	XP_016879223.1:n.334+216G>T
NM_001377486.1:c.334+216G>T	NP_001364415.1:n.334+216G>T
NM_022041.4:c.973+216G>T MANE Select	NP_071324.1:n.973+216G>T