Canonical Allele Identifier: CA284264162

Gene: GAN

Linked Data

• dbSNP Id: rs752302389
• gnomAD v4: 16-81315063-G-A
• MyVariant Identifiers: chr16:g.81348668G>A (hg19) ; chr16:g.81315063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81315063G>A , CM000678.2:g.81315063G>A	GRCh38
NC_000016.9:g.81348668G>A , CM000678.1:g.81348668G>A	GRCh37
NC_000016.8:g.79906169G>A	NCBI36
NG_009007.1:g.5098G>A , LRG_242:g.5098G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.-51G>A	ENSP00000498114.1:n.-51G>A
ENST00000648994.2:c.-51G>A MANE Select	ENSP00000497351.1:n.-51G>A
ENST00000674788.1:n.75G>A
ENST00000568107.2:c.-51G>A	ENSP00000476795.1:n.-51G>A
NM_022041.3:c.-51G>A , LRG_242t1:c.-51G>A	NP_071324.1:n.-51G>A
XM_017023734.1:c.-575G>A	XP_016879223.1:n.-575G>A
NM_001377486.1:c.-575G>A	NP_001364415.1:n.-575G>A
NM_022041.4:c.-51G>A MANE Select	NP_071324.1:n.-51G>A