Canonical Allele Identifier: CA496795207

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81388315T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354710T>C , CM000678.2:g.81354710T>C	GRCh38
NC_000016.9:g.81388315T>C , CM000678.1:g.81388315T>C	GRCh37
NC_000016.8:g.79945816T>C	NCBI36
NG_009007.1:g.44745T>C , LRG_242:g.44745T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*296T>C	ENSP00000498114.1:n.*296T>C
ENST00000648994.2:c.588T>C MANE Select	ENSP00000497351.1:p.Phe196=
ENST00000650388.1:c.168-2075T>C	ENSP00000498081.1:n.168-2075T>C
ENST00000674788.1:n.713T>C
ENST00000568107.2:c.588T>C	ENSP00000476795.1:p.Phe196=
NM_022041.3:c.588T>C , LRG_242t1:c.588T>C	NP_071324.1:p.Phe196=
XM_017023734.1:c.-52T>C	XP_016879223.1:n.-52T>C
NM_001377486.1:c.-52T>C	NP_001364415.1:n.-52T>C
NM_022041.4:c.588T>C MANE Select	NP_071324.1:p.Phe196=