Canonical Allele Identifier: CA496795125

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81388183T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354578T>C , CM000678.2:g.81354578T>C	GRCh38
NC_000016.9:g.81388183T>C , CM000678.1:g.81388183T>C	GRCh37
NC_000016.8:g.79945684T>C	NCBI36
NG_009007.1:g.44613T>C , LRG_242:g.44613T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*164T>C	ENSP00000498114.1:n.*164T>C
ENST00000648994.2:c.456T>C MANE Select	ENSP00000497351.1:p.Leu152=
ENST00000650388.1:c.168-2207T>C	ENSP00000498081.1:n.168-2207T>C
ENST00000674788.1:n.581T>C
ENST00000568107.2:c.456T>C	ENSP00000476795.1:p.Leu152=
NM_022041.3:c.456T>C , LRG_242t1:c.456T>C	NP_071324.1:p.Leu152=
XM_017023734.1:c.-184T>C	XP_016879223.1:n.-184T>C
NM_001377486.1:c.-184T>C	NP_001364415.1:n.-184T>C
NM_022041.4:c.456T>C MANE Select	NP_071324.1:p.Leu152=