Canonical Allele Identifier: CA493329530

Gene: NAGPA

Linked Data

• MyVariant Identifiers: chr16:g.5078036A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028035A>G , CM000678.2:g.5028035A>G	GRCh38
NC_000016.9:g.5078036A>G , CM000678.1:g.5078036A>G	GRCh37
NC_000016.8:g.5018037A>G	NCBI36
NG_028152.1:g.10907T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000312251.8:c.1071T>C MANE Select	ENSP00000310998.3:p.Cys357=
ENST00000649828.1:c.*243T>C	ENSP00000498032.1:n.*243T>C
ENST00000312251.7:c.1071T>C	ENSP00000310998.3:p.Cys357=
ENST00000381955.7:c.1071T>C	ENSP00000371381.3:p.Cys357=
ENST00000562746.5:c.*243T>C	ENSP00000455900.1:n.*243T>C
ENST00000563578.5:c.738+845T>C
ENST00000564397.5:n.2124T>C
ENST00000565876.5:c.481-656T>C
ENST00000566137.5:n.369T>C
ENST00000567739.5:n.390T>C
ENST00000568202.5:n.934T>C
ENST00000569296.5:c.684T>C	ENSP00000465949.1:n.684T>C
NM_016256.3:c.1071T>C	NP_057340.2:p.Cys357=
XM_011522517.1:c.1071T>C	XP_011520819.1:p.Cys357=
XR_243285.1:n.1167T>C
XM_011522517.3:c.1071T>C	XP_011520819.1:p.Cys357=
XR_001751908.2:n.1166T>C
XR_001751909.2:n.1170T>C
XR_001751910.2:n.1199T>C
XR_001751911.2:n.1199T>C
XR_001751912.2:n.1203T>C
NM_016256.4:c.1071T>C MANE Select	NP_057340.2:p.Cys357=