Canonical Allele Identifier: CA394662605

Gene: NAGPA

Linked Data

• MyVariant Identifiers: chr16:g.5078905A>G (hg19) ; chr16:g.5028904A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028904A>G , CM000678.2:g.5028904A>G	GRCh38
NC_000016.9:g.5078905A>G , CM000678.1:g.5078905A>G	GRCh37
NC_000016.8:g.5018906A>G	NCBI36
NG_028152.1:g.10038T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.896T>C MANE Select	ENSP00000310998.3:p.Leu299Ser
ENST00000649828.1:c.896T>C	ENSP00000498032.1:p.Leu299Ser
ENST00000312251.7:c.896T>C	ENSP00000310998.3:p.Leu299Ser
ENST00000381955.7:c.896T>C	ENSP00000371381.3:p.Leu299Ser
ENST00000562346.2:c.505-719T>C
ENST00000562746.5:c.896T>C	ENSP00000455900.1:p.Leu299Ser
ENST00000563578.5:c.714T>C
ENST00000564397.5:n.1255T>C
ENST00000565876.5:c.480+1481T>C
ENST00000567739.5:n.215T>C
ENST00000568202.5:n.759T>C
ENST00000569296.5:c.440T>C	ENSP00000465949.1:p.Leu147Ser
NM_016256.3:c.896T>C	NP_057340.2:p.Leu299Ser
XM_011522517.1:c.896T>C	XP_011520819.1:p.Leu299Ser
XM_011522518.1:c.896T>C	XP_011520820.1:p.Leu299Ser
XM_011522519.1:c.896T>C	XP_011520821.1:p.Leu299Ser
XR_243285.1:n.923T>C
XM_011522517.3:c.896T>C	XP_011520819.1:p.Leu299Ser
XR_001751908.2:n.922T>C
XR_001751909.2:n.922T>C
XR_001751910.2:n.922T>C
XR_001751911.2:n.922T>C
XR_001751912.2:n.922T>C
NM_016256.4:c.896T>C MANE Select	NP_057340.2:p.Leu299Ser