Canonical Allele Identifier: CA620523755

Gene: NAGPA

Linked Data

• dbSNP Id: rs1287513939
• gnomAD v2: 16-5079042-C-T
• gnomAD v3: 16-5029041-C-T
• gnomAD v4: 16-5029041-C-T
• MyVariant Identifiers: chr16:g.5079042C>T (hg19) ; chr16:g.5029041C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5029041C>T , CM000678.2:g.5029041C>T	GRCh38
NC_000016.9:g.5079042C>T , CM000678.1:g.5079042C>T	GRCh37
NC_000016.8:g.5019043C>T	NCBI36
NG_028152.1:g.9901G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.792-33G>A MANE Select	ENSP00000310998.3:n.792-33G>A
ENST00000649828.1:c.792-33G>A	ENSP00000498032.1:n.792-33G>A
ENST00000312251.7:c.792-33G>A	ENSP00000310998.3:n.792-33G>A
ENST00000381955.7:c.792-33G>A	ENSP00000371381.3:n.792-33G>A
ENST00000562037.1:c.553-33G>A	ENSP00000464994.1:n.553-33G>A
ENST00000562346.2:c.505-856G>A
ENST00000562746.5:c.792-33G>A	ENSP00000455900.1:n.792-33G>A
ENST00000563578.5:c.610-33G>A
ENST00000564397.5:n.1118G>A
ENST00000565876.5:c.480+1344G>A
ENST00000567739.5:n.78G>A
ENST00000568202.5:n.655-33G>A
ENST00000569296.5:c.336-33G>A	ENSP00000465949.1:n.336-33G>A
NM_016256.3:c.792-33G>A	NP_057340.2:n.792-33G>A
XM_011522517.1:c.792-33G>A	XP_011520819.1:n.792-33G>A
XM_011522518.1:c.792-33G>A	XP_011520820.1:n.792-33G>A
XM_011522519.1:c.792-33G>A	XP_011520821.1:n.792-33G>A
XR_243285.1:n.819-33G>A
XM_011522517.3:c.792-33G>A	XP_011520819.1:n.792-33G>A
XR_001751908.2:n.818-33G>A
XR_001751909.2:n.818-33G>A
XR_001751910.2:n.818-33G>A
XR_001751911.2:n.818-33G>A
XR_001751912.2:n.818-33G>A
NM_016256.4:c.792-33G>A MANE Select	NP_057340.2:n.792-33G>A