Canonical Allele Identifier: CA8191254

Gene: GAN

Linked Data

• dbSNP Id: rs763122755
• ExAC: 16:81348837 A / C
• gnomAD v2: 16-81348837-A-C
• MyVariant Identifiers: chr16:g.81348837A>C (hg19) ; chr16:g.81315232A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81315232A>C , CM000678.2:g.81315232A>C	GRCh38
NC_000016.9:g.81348837A>C , CM000678.1:g.81348837A>C	GRCh37
NC_000016.8:g.79906338A>C	NCBI36
NG_009007.1:g.5267A>C , LRG_242:g.5267A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.119A>C	ENSP00000498114.1:p.Glu40Ala
ENST00000648994.2:c.119A>C MANE Select	ENSP00000497351.1:p.Glu40Ala
ENST00000650388.1:c.119A>C	ENSP00000498081.1:p.Glu40Ala
ENST00000674788.1:n.244A>C
ENST00000568107.2:c.119A>C	ENSP00000476795.1:p.Glu40Ala
NM_022041.3:c.119A>C , LRG_242t1:c.119A>C	NP_071324.1:p.Glu40Ala
XM_017023734.1:c.-406A>C	XP_016879223.1:n.-406A>C
NM_001377486.1:c.-406A>C	NP_001364415.1:n.-406A>C
NM_022041.4:c.119A>C MANE Select	NP_071324.1:p.Glu40Ala