Canonical Allele Identifier: CA496795225

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81388345T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354740T>C , CM000678.2:g.81354740T>C	GRCh38
NC_000016.9:g.81388345T>C , CM000678.1:g.81388345T>C	GRCh37
NC_000016.8:g.79945846T>C	NCBI36
NG_009007.1:g.44775T>C , LRG_242:g.44775T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*326T>C	ENSP00000498114.1:n.*326T>C
ENST00000648994.2:c.618T>C MANE Select	ENSP00000497351.1:p.Asp206=
ENST00000650388.1:c.168-2045T>C	ENSP00000498081.1:n.168-2045T>C
ENST00000674788.1:n.743T>C
ENST00000568107.2:c.618T>C	ENSP00000476795.1:p.Asp206=
NM_022041.3:c.618T>C , LRG_242t1:c.618T>C	NP_071324.1:p.Asp206=
XM_017023734.1:c.-22T>C	XP_016879223.1:n.-22T>C
NM_001377486.1:c.-22T>C	NP_001364415.1:n.-22T>C
NM_022041.4:c.618T>C MANE Select	NP_071324.1:p.Asp206=