Canonical Allele Identifier: CA13628871

Gene: PGAM1P5 NTN4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95663408A>G , CM000674.2:g.95663408A>G	GRCh38
NC_000012.11:g.96057184A>G , CM000674.1:g.96057184A>G	GRCh37
NC_000012.10:g.94581315A>G	NCBI36
NG_051252.1:g.132799T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_021229.4:c.1750+2402T>C (NTN4) MANE Select	NP_067052.2:n.1750+2402T>C
ENST00000343702.9:c.1750+2402T>C (NTN4) MANE Select	ENSP00000340998.4:n.1750+2402T>C
NM_001329700.1:c.1681+2402T>C (NTN4)	NP_001316629.1:n.1681+2402T>C
NM_001329700.2:c.1681+2402T>C (NTN4)	NP_001316629.1:n.1681+2402T>C
NM_001329701.1:c.1639+2402T>C (NTN4)	NP_001316630.1:n.1639+2402T>C
NM_001329701.2:c.1639+2402T>C (NTN4)	NP_001316630.1:n.1639+2402T>C
NM_001329702.1:c.1639+2402T>C (NTN4)	NP_001316631.1:n.1639+2402T>C
NM_001329702.2:c.1639+2402T>C (NTN4)	NP_001316631.1:n.1639+2402T>C
NM_021229.3:c.1750+2402T>C (NTN4)	NP_067052.2:n.1750+2402T>C
NR_077225.1:n.153-2275A>G (PGAM1P5)
ENST00000343702.8:c.1750+2402T>C (NTN4)	ENSP00000340998.4:n.1750+2402T>C
ENST00000344911.8:c.1639+2402T>C (NTN4)	ENSP00000339436.4:n.1639+2402T>C
ENST00000538383.5:c.1639+2402T>C (NTN4)	ENSP00000444432.1:n.1639+2402T>C
ENST00000550074.1:n.276T>C (NTN4)
ENST00000552554.1:n.153-2275A>G (PGAM1P5)
ENST00000553059.1:c.1681+2402T>C (NTN4)	ENSP00000447292.1:n.1681+2402T>C
ENST00000626376.2:n.220-2275A>G (PGAM1P5)
ENST00000674345.1:c.*101T>C (NTN4)	ENSP00000501488.1:n.*101T>C
ENST00000688412.1:n.176-2275A>G (PGAM1P5)
XM_011538629.1:c.1864+2402T>C (NTN4)	XP_011536931.1:n.1864+2402T>C