Canonical Allele Identifier: CA2333851602

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35850973T= , CM000681.2:g.35850973T=	GRCh38
NC_000019.9:g.36341875T= , CM000681.1:g.36341875T=	GRCh37
NC_000019.8:g.41033715T=	NCBI36
NG_013356.2:g.23315A= , LRG_693:g.23315A=
NG_051206.1:g.4339T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000378910.10:c.514A= MANE Select	ENSP00000368190.4:p.Thr172=
ENST00000353632.6:c.514A=	ENSP00000343634.5:p.Thr172=
ENST00000378910.9:c.514A=	ENSP00000368190.4:p.Thr172=
NM_004646.3:c.514A= , LRG_693t1:c.514A=	NP_004637.1:p.Thr172=
NM_004646.4:c.514A= MANE Select	NP_004637.1:p.Thr172=