Canonical Allele Identifier: CA394660060

Gene: NAGPA

Linked Data

• MyVariant Identifiers: chr16:g.5077858T>G (hg19) ; chr16:g.5027857T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027857T>G , CM000678.2:g.5027857T>G	GRCh38
NC_000016.9:g.5077858T>G , CM000678.1:g.5077858T>G	GRCh37
NC_000016.8:g.5017859T>G	NCBI36
NG_028152.1:g.11085A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1163A>C MANE Select	ENSP00000310998.3:p.Asn388Thr
ENST00000649828.1:c.*335A>C	ENSP00000498032.1:n.*335A>C
ENST00000312251.7:c.1163A>C	ENSP00000310998.3:p.Asn388Thr
ENST00000381955.7:c.1163A>C	ENSP00000371381.3:p.Asn388Thr
ENST00000562746.5:c.*335A>C	ENSP00000455900.1:n.*335A>C
ENST00000563578.5:c.738+1023A>C
ENST00000564397.5:n.2216A>C
ENST00000565876.5:c.481-478A>C
ENST00000566137.5:n.461A>C
ENST00000567739.5:n.482A>C
ENST00000568202.5:n.1026A>C
ENST00000569296.5:c.776A>C	ENSP00000465949.1:n.776A>C
NM_016256.3:c.1163A>C	NP_057340.2:p.Asn388Thr
XM_011522517.1:c.1163A>C	XP_011520819.1:p.Asn388Thr
XR_243285.1:n.1259A>C
XM_011522517.3:c.1163A>C	XP_011520819.1:p.Asn388Thr
XR_001751908.2:n.1258A>C
XR_001751909.2:n.1262A>C
XR_001751910.2:n.1291A>C
XR_001751911.2:n.1291A>C
XR_001751912.2:n.1295A>C
NM_016256.4:c.1163A>C MANE Select	NP_057340.2:p.Asn388Thr