Canonical Allele Identifier: CA394662657

Gene: NAGPA

Linked Data

• MyVariant Identifiers: chr16:g.5078918G>A (hg19) ; chr16:g.5028917G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028917G>A , CM000678.2:g.5028917G>A	GRCh38
NC_000016.9:g.5078918G>A , CM000678.1:g.5078918G>A	GRCh37
NC_000016.8:g.5018919G>A	NCBI36
NG_028152.1:g.10025C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.883C>T MANE Select	ENSP00000310998.3:p.Leu295Phe
ENST00000649828.1:c.883C>T	ENSP00000498032.1:p.Leu295Phe
ENST00000312251.7:c.883C>T	ENSP00000310998.3:p.Leu295Phe
ENST00000381955.7:c.883C>T	ENSP00000371381.3:p.Leu295Phe
ENST00000562346.2:c.505-732C>T
ENST00000562746.5:c.883C>T	ENSP00000455900.1:p.Leu295Phe
ENST00000563578.5:c.701C>T
ENST00000564397.5:n.1242C>T
ENST00000565876.5:c.480+1468C>T
ENST00000567739.5:n.202C>T
ENST00000568202.5:n.746C>T
ENST00000569296.5:c.427C>T	ENSP00000465949.1:p.Leu143Phe
NM_016256.3:c.883C>T	NP_057340.2:p.Leu295Phe
XM_011522517.1:c.883C>T	XP_011520819.1:p.Leu295Phe
XM_011522518.1:c.883C>T	XP_011520820.1:p.Leu295Phe
XM_011522519.1:c.883C>T	XP_011520821.1:p.Leu295Phe
XR_243285.1:n.910C>T
XM_011522517.3:c.883C>T	XP_011520819.1:p.Leu295Phe
XR_001751908.2:n.909C>T
XR_001751909.2:n.909C>T
XR_001751910.2:n.909C>T
XR_001751911.2:n.909C>T
XR_001751912.2:n.909C>T
NM_016256.4:c.883C>T MANE Select	NP_057340.2:p.Leu295Phe