Canonical Allele Identifier: CA396867323

Gene: GAN

Linked Data

• ClinVar Variation Id: 634516
• ClinVar RCV Id: RCV000785009
• dbSNP Id: rs761334418
• MyVariant Identifiers: chr16:g.81388041T>C (hg19) ; chr16:g.81354436T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354436T>C , CM000678.2:g.81354436T>C	GRCh38
NC_000016.9:g.81388041T>C , CM000678.1:g.81388041T>C	GRCh37
NC_000016.8:g.79945542T>C	NCBI36
NG_009007.1:g.44471T>C , LRG_242:g.44471T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.*22T>C	ENSP00000498114.1:n.*22T>C
ENST00000648994.2:c.314T>C MANE Select	ENSP00000497351.1:p.Val105Ala
ENST00000650388.1:c.168-2349T>C	ENSP00000498081.1:n.168-2349T>C
ENST00000674788.1:n.439T>C
ENST00000568107.2:c.314T>C	ENSP00000476795.1:p.Val105Ala
NM_022041.3:c.314T>C , LRG_242t1:c.314T>C	NP_071324.1:p.Val105Ala
XM_017023734.1:c.-326T>C	XP_016879223.1:n.-326T>C
NM_001377486.1:c.-326T>C	NP_001364415.1:n.-326T>C
NM_022041.4:c.314T>C MANE Select	NP_071324.1:p.Val105Ala