Canonical Allele Identifier: CA7888686
Gene: NAGPA HGNC NCBI

Linked Data

dbSNP Id: rs770833107
gnomAD v2: 16-5078966-C-T
gnomAD v3: 16-5028965-C-T
gnomAD v4: 16-5028965-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5028965C>T , CM000678.2:g.5028965C>T GRCh38
NC_000016.9:g.5078966C>T , CM000678.1:g.5078966C>T GRCh37
NC_000016.8:g.5018967C>T NCBI36
NG_028152.1:g.9977G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312251.8:c.835G>A MANE Select ENSP00000310998.3:p.Val279Met
ENST00000649828.1:c.835G>A ENSP00000498032.1:p.Val279Met
ENST00000312251.7:c.835G>A ENSP00000310998.3:p.Val279Met
ENST00000381955.7:c.835G>A ENSP00000371381.3:p.Val279Met
ENST00000562037.1:c.596G>A ENSP00000464994.1:n.596G>A
ENST00000562346.2:c.505-780G>A
ENST00000562746.5:c.835G>A ENSP00000455900.1:p.Val279Met
ENST00000563578.5:c.653G>A
ENST00000564397.5:n.1194G>A
ENST00000565876.5:c.480+1420G>A
ENST00000567739.5:n.154G>A
ENST00000568202.5:n.698G>A
ENST00000569296.5:c.379G>A ENSP00000465949.1:p.Val127Met
NM_016256.3:c.835G>A NP_057340.2:p.Val279Met
XM_011522517.1:c.835G>A XP_011520819.1:p.Val279Met
XM_011522518.1:c.835G>A XP_011520820.1:p.Val279Met
XM_011522519.1:c.835G>A XP_011520821.1:p.Val279Met
XR_243285.1:n.862G>A
XM_011522517.3:c.835G>A XP_011520819.1:p.Val279Met
XR_001751908.2:n.861G>A
XR_001751909.2:n.861G>A
XR_001751910.2:n.861G>A
XR_001751911.2:n.861G>A
XR_001751912.2:n.861G>A
NM_016256.4:c.835G>A MANE Select NP_057340.2:p.Val279Met