Canonical Allele Identifier: CA394662669

Gene: NAGPA

Linked Data

• MyVariant Identifiers: chr16:g.5078921C>A (hg19) ; chr16:g.5028920C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028920C>A , CM000678.2:g.5028920C>A	GRCh38
NC_000016.9:g.5078921C>A , CM000678.1:g.5078921C>A	GRCh37
NC_000016.8:g.5018922C>A	NCBI36
NG_028152.1:g.10022G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.880G>T MANE Select	ENSP00000310998.3:p.Val294Leu
ENST00000649828.1:c.880G>T	ENSP00000498032.1:p.Val294Leu
ENST00000312251.7:c.880G>T	ENSP00000310998.3:p.Val294Leu
ENST00000381955.7:c.880G>T	ENSP00000371381.3:p.Val294Leu
ENST00000562346.2:c.505-735G>T
ENST00000562746.5:c.880G>T	ENSP00000455900.1:p.Val294Leu
ENST00000563578.5:c.698G>T
ENST00000564397.5:n.1239G>T
ENST00000565876.5:c.480+1465G>T
ENST00000567739.5:n.199G>T
ENST00000568202.5:n.743G>T
ENST00000569296.5:c.424G>T	ENSP00000465949.1:p.Val142Leu
NM_016256.3:c.880G>T	NP_057340.2:p.Val294Leu
XM_011522517.1:c.880G>T	XP_011520819.1:p.Val294Leu
XM_011522518.1:c.880G>T	XP_011520820.1:p.Val294Leu
XM_011522519.1:c.880G>T	XP_011520821.1:p.Val294Leu
XR_243285.1:n.907G>T
XM_011522517.3:c.880G>T	XP_011520819.1:p.Val294Leu
XR_001751908.2:n.906G>T
XR_001751909.2:n.906G>T
XR_001751910.2:n.906G>T
XR_001751911.2:n.906G>T
XR_001751912.2:n.906G>T
NM_016256.4:c.880G>T MANE Select	NP_057340.2:p.Val294Leu