Canonical Allele Identifier: CA396873252

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81391458T>C (hg19) ; chr16:g.81357853T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357853T>C , CM000678.2:g.81357853T>C	GRCh38
NC_000016.9:g.81391458T>C , CM000678.1:g.81391458T>C	GRCh37
NC_000016.8:g.79948959T>C	NCBI36
NG_009007.1:g.47888T>C , LRG_242:g.47888T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*603T>C	ENSP00000498114.1:n.*603T>C
ENST00000648994.2:c.895T>C MANE Select	ENSP00000497351.1:p.Tyr299His
ENST00000650388.1:c.429T>C	ENSP00000498081.1:n.429T>C
ENST00000568107.2:c.895T>C	ENSP00000476795.1:p.Tyr299His
NM_022041.3:c.895T>C , LRG_242t1:c.895T>C	NP_071324.1:p.Tyr299His
XM_017023734.1:c.256T>C	XP_016879223.1:p.Tyr86His
NM_001377486.1:c.256T>C	NP_001364415.1:p.Tyr86His
NM_022041.4:c.895T>C MANE Select	NP_071324.1:p.Tyr299His