Canonical Allele Identifier: CA509454920

Gene: CRLS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6006300T>G , CM000682.2:g.6006300T>G	GRCh38
NC_000020.10:g.5986946T>G , CM000682.1:g.5986946T>G	GRCh37
NC_000020.9:g.5934946T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378863.9:c.54T>G MANE Select	ENSP00000368140.4:p.Ala18=
ENST00000652720.1:c.2431-3475T>G	ENSP00000498784.1:n.2431-3475T>G
ENST00000378863.8:c.54T>G	ENSP00000368140.4:p.Ala18=
ENST00000452938.5:c.54T>G	ENSP00000416770.1:p.Ala18=
NM_019095.4:c.54T>G	NP_061968.1:p.Ala18=
XM_006723579.2:c.54T>G	XP_006723642.1:p.Ala18=
XM_011529262.1:c.54T>G	XP_011527564.1:p.Ala18=
XM_011529263.1:c.54T>G	XP_011527565.1:p.Ala18=
NM_001323562.1:c.-28+189T>G	NP_001310491.1:n.-28+189T>G
NM_001323563.1:c.-342T>G	NP_001310492.1:n.-342T>G
NM_019095.5:c.54T>G	NP_061968.1:p.Ala18=
NR_136617.1:n.228T>G
XM_011529263.2:c.54T>G	XP_011527565.1:p.Ala18=
XR_001754297.2:n.309T>G
XR_001754298.2:n.308T>G
NM_001323563.2:c.-342T>G	NP_001310492.1:n.-342T>G
NM_019095.6:c.54T>G MANE Select	NP_061968.1:p.Ala18=
NR_136617.2:n.178T>G
NM_001323562.2:c.-28+189T>G	NP_001310491.1:n.-28+189T>G