Canonical Allele Identifier: CA8191386

Gene: GAN

Linked Data

• dbSNP Id: rs745558424
• ExAC: 16:81388251 C / A
• gnomAD v2: 16-81388251-C-A
• gnomAD v3: 16-81354646-C-A
• gnomAD v4: 16-81354646-C-A
• MyVariant Identifiers: chr16:g.81388251C>A (hg19) ; chr16:g.81354646C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354646C>A , CM000678.2:g.81354646C>A	GRCh38
NC_000016.9:g.81388251C>A , CM000678.1:g.81388251C>A	GRCh37
NC_000016.8:g.79945752C>A	NCBI36
NG_009007.1:g.44681C>A , LRG_242:g.44681C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*232C>A	ENSP00000498114.1:n.*232C>A
ENST00000648994.2:c.524C>A MANE Select	ENSP00000497351.1:p.Pro175His
ENST00000650388.1:c.168-2139C>A	ENSP00000498081.1:n.168-2139C>A
ENST00000674788.1:n.649C>A
ENST00000568107.2:c.524C>A	ENSP00000476795.1:p.Pro175His
NM_022041.3:c.524C>A , LRG_242t1:c.524C>A	NP_071324.1:p.Pro175His
XM_017023734.1:c.-116C>A	XP_016879223.1:n.-116C>A
NM_001377486.1:c.-116C>A	NP_001364415.1:n.-116C>A
NM_022041.4:c.524C>A MANE Select	NP_071324.1:p.Pro175His