Canonical Allele Identifier: CA466503095
Gene: ABCA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.107560720A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104798439A>G , CM000671.2:g.104798439A>G GRCh38
NC_000009.11:g.107560720A>G , CM000671.1:g.107560720A>G GRCh37
NC_000009.10:g.106600541A>G NCBI36
NG_007981.1:g.134717T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.5103T>C MANE Select ENSP00000363868.3:p.Ser1701=
ENST00000678995.1:c.5109T>C ENSP00000504612.1:p.Ser1703=
ENST00000374736.7:c.5103T>C ENSP00000363868.3:p.Ser1701=
NM_005502.3:c.5103T>C NP_005493.2:p.Ser1701=
XM_005251773.1:c.5109T>C XP_005251830.1:p.Ser1703=
XM_005251776.1:c.4929T>C XP_005251833.1:p.Ser1643=
XM_011518339.1:c.5184T>C XP_011516641.1:p.Ser1728=
XM_011518340.1:c.5184T>C XP_011516642.1:p.Ser1728=
XM_011518341.1:c.5178T>C XP_011516643.1:p.Ser1726=
XM_011518342.1:c.4746T>C XP_011516644.1:p.Ser1582=
XM_011518343.1:c.5184T>C XP_011516645.1:p.Ser1728=
XM_005251773.3:c.5109T>C XP_005251830.1:p.Ser1703=
XM_005251776.3:c.4929T>C XP_005251833.1:p.Ser1643=
XM_011518339.3:c.5184T>C XP_011516641.1:p.Ser1728=
XM_011518340.3:c.5184T>C XP_011516642.1:p.Ser1728=
XM_011518341.3:c.5178T>C XP_011516643.1:p.Ser1726=
XM_011518342.3:c.4746T>C XP_011516644.1:p.Ser1582=
XM_017014378.2:c.5184T>C XP_016869867.1:p.Ser1728=
XM_017014379.2:c.5184T>C XP_016869868.1:p.Ser1728=
XM_017014380.2:c.5184T>C XP_016869869.1:p.Ser1728=
XM_017014381.2:c.5184T>C XP_016869870.1:p.Ser1728=
XM_017014382.2:c.5046T>C XP_016869871.1:p.Ser1682=
XR_001746223.1:n.5497T>C
NM_005502.4:c.5103T>C MANE Select NP_005493.2:p.Ser1701=