Canonical Allele Identifier: CA396869024

Gene: GAN

Linked Data

• gnomAD v4: 16-81354691-G-A
• MyVariant Identifiers: chr16:g.81388296G>A (hg19) ; chr16:g.81354691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354691G>A , CM000678.2:g.81354691G>A	GRCh38
NC_000016.9:g.81388296G>A , CM000678.1:g.81388296G>A	GRCh37
NC_000016.8:g.79945797G>A	NCBI36
NG_009007.1:g.44726G>A , LRG_242:g.44726G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*277G>A	ENSP00000498114.1:n.*277G>A
ENST00000648994.2:c.569G>A MANE Select	ENSP00000497351.1:p.Gly190Asp
ENST00000650388.1:c.168-2094G>A	ENSP00000498081.1:n.168-2094G>A
ENST00000674788.1:n.694G>A
ENST00000568107.2:c.569G>A	ENSP00000476795.1:p.Gly190Asp
NM_022041.3:c.569G>A , LRG_242t1:c.569G>A	NP_071324.1:p.Gly190Asp
XM_017023734.1:c.-71G>A	XP_016879223.1:n.-71G>A
NM_001377486.1:c.-71G>A	NP_001364415.1:n.-71G>A
NM_022041.4:c.569G>A MANE Select	NP_071324.1:p.Gly190Asp