Canonical Allele Identifier: CA496795182

Gene: GAN

Linked Data

• dbSNP Id: rs1910426450
• gnomAD v3: 16-81354665-G-T
• gnomAD v4: 16-81354665-G-T
• MyVariant Identifiers: chr16:g.81388270G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354665G>T , CM000678.2:g.81354665G>T	GRCh38
NC_000016.9:g.81388270G>T , CM000678.1:g.81388270G>T	GRCh37
NC_000016.8:g.79945771G>T	NCBI36
NG_009007.1:g.44700G>T , LRG_242:g.44700G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*251G>T	ENSP00000498114.1:n.*251G>T
ENST00000648994.2:c.543G>T MANE Select	ENSP00000497351.1:p.Val181=
ENST00000650388.1:c.168-2120G>T	ENSP00000498081.1:n.168-2120G>T
ENST00000674788.1:n.668G>T
ENST00000568107.2:c.543G>T	ENSP00000476795.1:p.Val181=
NM_022041.3:c.543G>T , LRG_242t1:c.543G>T	NP_071324.1:p.Val181=
XM_017023734.1:c.-97G>T	XP_016879223.1:n.-97G>T
NM_001377486.1:c.-97G>T	NP_001364415.1:n.-97G>T
NM_022041.4:c.543G>T MANE Select	NP_071324.1:p.Val181=