Canonical Allele Identifier: CA2590303754

Gene: NAGPA

Linked Data

• gnomAD v3: 16-5027960-T-G
• gnomAD v4: 16-5027960-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027960T>G , CM000678.2:g.5027960T>G	GRCh38
NC_000016.9:g.5077961T>G , CM000678.1:g.5077961T>G	GRCh37
NC_000016.8:g.5017962T>G	NCBI36
NG_028152.1:g.10982A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1126+20A>C MANE Select	ENSP00000310998.3:n.1126+20A>C
ENST00000649828.1:c.*298+20A>C	ENSP00000498032.1:n.*298+20A>C
ENST00000312251.7:c.1126+20A>C	ENSP00000310998.3:n.1126+20A>C
ENST00000381955.7:c.1126+20A>C	ENSP00000371381.3:n.1126+20A>C
ENST00000562746.5:c.*298+20A>C	ENSP00000455900.1:n.*298+20A>C
ENST00000563578.5:c.738+920A>C
ENST00000564397.5:n.2179+20A>C
ENST00000565876.5:c.481-581A>C
ENST00000566137.5:n.424+20A>C
ENST00000567739.5:n.445+20A>C
ENST00000568202.5:n.989+20A>C
ENST00000569296.5:c.739+20A>C	ENSP00000465949.1:n.739+20A>C
NM_016256.3:c.1126+20A>C	NP_057340.2:n.1126+20A>C
XM_011522517.1:c.1126+20A>C	XP_011520819.1:n.1126+20A>C
XR_243285.1:n.1222+20A>C
XM_011522517.3:c.1126+20A>C	XP_011520819.1:n.1126+20A>C
XR_001751908.2:n.1221+20A>C
XR_001751909.2:n.1225+20A>C
XR_001751910.2:n.1254+20A>C
XR_001751911.2:n.1254+20A>C
XR_001751912.2:n.1258+20A>C
NM_016256.4:c.1126+20A>C MANE Select	NP_057340.2:n.1126+20A>C