Canonical Allele Identifier: CA8191322

Gene: GAN

Linked Data

• dbSNP Id: rs780979004
• ExAC: 16:81387965 T / G
• gnomAD v2: 16-81387965-T-G
• gnomAD v3: 16-81354360-T-G
• gnomAD v4: 16-81354360-T-G
• MyVariant Identifiers: chr16:g.81387965T>G (hg19) ; chr16:g.81354360T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354360T>G , CM000678.2:g.81354360T>G	GRCh38
NC_000016.9:g.81387965T>G , CM000678.1:g.81387965T>G	GRCh37
NC_000016.8:g.79945466T>G	NCBI36
NG_009007.1:g.44395T>G , LRG_242:g.44395T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.168-45T>G	ENSP00000498114.1:n.168-45T>G
ENST00000648994.2:c.283-45T>G MANE Select	ENSP00000497351.1:n.283-45T>G
ENST00000650388.1:c.168-2425T>G	ENSP00000498081.1:n.168-2425T>G
ENST00000674788.1:n.408-45T>G
ENST00000568107.2:c.283-45T>G	ENSP00000476795.1:n.283-45T>G
NM_022041.3:c.283-45T>G , LRG_242t1:c.283-45T>G	NP_071324.1:n.283-45T>G
XM_017023734.1:c.-357-45T>G	XP_016879223.1:n.-357-45T>G
NM_001377486.1:c.-357-45T>G	NP_001364415.1:n.-357-45T>G
NM_022041.4:c.283-45T>G MANE Select	NP_071324.1:n.283-45T>G