Canonical Allele Identifier: CA396867872

Gene: GAN

Linked Data

• gnomAD v4: 16-81354502-G-A
• MyVariant Identifiers: chr16:g.81388107G>A (hg19) ; chr16:g.81354502G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354502G>A , CM000678.2:g.81354502G>A	GRCh38
NC_000016.9:g.81388107G>A , CM000678.1:g.81388107G>A	GRCh37
NC_000016.8:g.79945608G>A	NCBI36
NG_009007.1:g.44537G>A , LRG_242:g.44537G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*88G>A	ENSP00000498114.1:n.*88G>A
ENST00000648994.2:c.380G>A MANE Select	ENSP00000497351.1:p.Gly127Asp
ENST00000650388.1:c.168-2283G>A	ENSP00000498081.1:n.168-2283G>A
ENST00000674788.1:n.505G>A
ENST00000568107.2:c.380G>A	ENSP00000476795.1:p.Gly127Asp
NM_022041.3:c.380G>A , LRG_242t1:c.380G>A	NP_071324.1:p.Gly127Asp
XM_017023734.1:c.-260G>A	XP_016879223.1:n.-260G>A
NM_001377486.1:c.-260G>A	NP_001364415.1:n.-260G>A
NM_022041.4:c.380G>A MANE Select	NP_071324.1:p.Gly127Asp