Canonical Allele Identifier: CA396855059

Gene: GAN

Linked Data

• gnomAD v4: 16-81315274-A-G
• MyVariant Identifiers: chr16:g.81348879A>G (hg19) ; chr16:g.81315274A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81315274A>G , CM000678.2:g.81315274A>G	GRCh38
NC_000016.9:g.81348879A>G , CM000678.1:g.81348879A>G	GRCh37
NC_000016.8:g.79906380A>G	NCBI36
NG_009007.1:g.5309A>G , LRG_242:g.5309A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.161A>G	ENSP00000498114.1:p.Tyr54Cys
ENST00000648994.2:c.161A>G MANE Select	ENSP00000497351.1:p.Tyr54Cys
ENST00000650388.1:c.161A>G	ENSP00000498081.1:p.Tyr54Cys
ENST00000674788.1:n.286A>G
ENST00000568107.2:c.161A>G	ENSP00000476795.1:p.Tyr54Cys
NM_022041.3:c.161A>G , LRG_242t1:c.161A>G	NP_071324.1:p.Tyr54Cys
XM_017023734.1:c.-364A>G	XP_016879223.1:n.-364A>G
NM_001377486.1:c.-364A>G	NP_001364415.1:n.-364A>G
NM_022041.4:c.161A>G MANE Select	NP_071324.1:p.Tyr54Cys