Canonical Allele Identifier: CA396873521

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81391518C>T (hg19) ; chr16:g.81357913C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357913C>T , CM000678.2:g.81357913C>T	GRCh38
NC_000016.9:g.81391518C>T , CM000678.1:g.81391518C>T	GRCh37
NC_000016.8:g.79949019C>T	NCBI36
NG_009007.1:g.47948C>T , LRG_242:g.47948C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*663C>T	ENSP00000498114.1:n.*663C>T
ENST00000648994.2:c.955C>T MANE Select	ENSP00000497351.1:p.His319Tyr
ENST00000650388.1:c.489C>T	ENSP00000498081.1:n.489C>T
ENST00000568107.2:c.955C>T	ENSP00000476795.1:p.His319Tyr
NM_022041.3:c.955C>T , LRG_242t1:c.955C>T	NP_071324.1:p.His319Tyr
XM_017023734.1:c.316C>T	XP_016879223.1:p.His106Tyr
NM_001377486.1:c.316C>T	NP_001364415.1:p.His106Tyr
NM_022041.4:c.955C>T MANE Select	NP_071324.1:p.His319Tyr