Canonical Allele Identifier: CA493329414

Gene: NAGPA

Linked Data

• MyVariant Identifiers: chr16:g.5077848T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027847T>C , CM000678.2:g.5027847T>C	GRCh38
NC_000016.9:g.5077848T>C , CM000678.1:g.5077848T>C	GRCh37
NC_000016.8:g.5017849T>C	NCBI36
NG_028152.1:g.11095A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1173A>G MANE Select	ENSP00000310998.3:p.Glu391=
ENST00000649828.1:c.*345A>G	ENSP00000498032.1:n.*345A>G
ENST00000312251.7:c.1173A>G	ENSP00000310998.3:p.Glu391=
ENST00000381955.7:c.1173A>G	ENSP00000371381.3:p.Glu391=
ENST00000562746.5:c.*345A>G	ENSP00000455900.1:n.*345A>G
ENST00000563578.5:c.738+1033A>G
ENST00000564397.5:n.2226A>G
ENST00000565876.5:c.481-468A>G
ENST00000566137.5:n.471A>G
ENST00000567739.5:n.492A>G
ENST00000568202.5:n.1036A>G
ENST00000569296.5:c.786A>G	ENSP00000465949.1:n.786A>G
NM_016256.3:c.1173A>G	NP_057340.2:p.Glu391=
XM_011522517.1:c.1173A>G	XP_011520819.1:p.Glu391=
XR_243285.1:n.1269A>G
XM_011522517.3:c.1173A>G	XP_011520819.1:p.Glu391=
XR_001751908.2:n.1268A>G
XR_001751909.2:n.1272A>G
XR_001751910.2:n.1301A>G
XR_001751911.2:n.1301A>G
XR_001751912.2:n.1305A>G
NM_016256.4:c.1173A>G MANE Select	NP_057340.2:p.Glu391=