Canonical Allele Identifier: CA396869522

Gene: GAN

Linked Data

• gnomAD v4: 16-81354751-G-A
• MyVariant Identifiers: chr16:g.81388356G>A (hg19) ; chr16:g.81354751G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354751G>A , CM000678.2:g.81354751G>A	GRCh38
NC_000016.9:g.81388356G>A , CM000678.1:g.81388356G>A	GRCh37
NC_000016.8:g.79945857G>A	NCBI36
NG_009007.1:g.44786G>A , LRG_242:g.44786G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*337G>A	ENSP00000498114.1:n.*337G>A
ENST00000648994.2:c.629G>A MANE Select	ENSP00000497351.1:p.Arg210Lys
ENST00000650388.1:c.168-2034G>A	ENSP00000498081.1:n.168-2034G>A
ENST00000674788.1:n.754G>A
ENST00000568107.2:c.629G>A	ENSP00000476795.1:p.Arg210Lys
NM_022041.3:c.629G>A , LRG_242t1:c.629G>A	NP_071324.1:p.Arg210Lys
XM_017023734.1:c.-11G>A	XP_016879223.1:n.-11G>A
NM_001377486.1:c.-11G>A	NP_001364415.1:n.-11G>A
NM_022041.4:c.629G>A MANE Select	NP_071324.1:p.Arg210Lys