Canonical Allele Identifier: CA1869944174
Community Standard Title: NM_005502.4(ABCA1):c.3738+1G=
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104816142C= , CM000671.2:g.104816142C= GRCh38
NC_000009.11:g.107578423C= , CM000671.1:g.107578423C= GRCh37
NC_000009.10:g.106618244C= NCBI36
NG_007981.1:g.117014G=

Transcript Alleles

HGVS Amino-acid Change
NM_005502.4:c.3738+1G= MANE Select NP_005493.2:n.3738+1G=
ENST00000374736.8:c.3738+1G= MANE Select ENSP00000363868.3:n.3738+1G=
NM_005502.3:c.3738+1G= NP_005493.2:n.3738+1G=
ENST00000374736.7:c.3738+1G= ENSP00000363868.3:n.3738+1G=
ENST00000678995.1:c.3744+1G= ENSP00000504612.1:n.3744+1G=
XM_005251773.1:c.3744+1G= XP_005251830.1:n.3744+1G=
XM_005251773.3:c.3744+1G= XP_005251830.1:n.3744+1G=
XM_005251776.1:c.3564+1G= XP_005251833.1:n.3564+1G=
XM_005251776.3:c.3564+1G= XP_005251833.1:n.3564+1G=
XM_011518339.1:c.3819+1G= XP_011516641.1:n.3819+1G=
XM_011518339.3:c.3819+1G= XP_011516641.1:n.3819+1G=
XM_011518340.1:c.3819+1G= XP_011516642.1:n.3819+1G=
XM_011518340.3:c.3819+1G= XP_011516642.1:n.3819+1G=
XM_011518341.1:c.3813+1G= XP_011516643.1:n.3813+1G=
XM_011518341.3:c.3813+1G= XP_011516643.1:n.3813+1G=
XM_011518342.1:c.3381+1G= XP_011516644.1:n.3381+1G=
XM_011518342.3:c.3381+1G= XP_011516644.1:n.3381+1G=
XM_011518343.1:c.3819+1G= XP_011516645.1:n.3819+1G=
XM_011518344.1:c.3819+1G= XP_011516646.1:n.3819+1G=
XM_011518344.2:c.3819+1G= XP_011516646.1:n.3819+1G=
XM_017014378.2:c.3819+1G= XP_016869867.1:n.3819+1G=
XM_017014379.2:c.3819+1G= XP_016869868.1:n.3819+1G=
XM_017014380.2:c.3819+1G= XP_016869869.1:n.3819+1G=
XM_017014381.2:c.3819+1G= XP_016869870.1:n.3819+1G=
XM_017014382.2:c.3681+1G= XP_016869871.1:n.3681+1G=
XR_001746223.1:n.4132+1G=