Canonical Allele Identifier: CA197383270

Gene: ABCA1

Linked Data

• dbSNP Id: rs962013576
• gnomAD v2: 9-107581145-A-T
• gnomAD v3: 9-104818864-A-T
• gnomAD v4: 9-104818864-A-T
• MyVariant Identifiers: chr9:g.107581145A>T (hg19) ; chr9:g.104818864A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104818864A>T , CM000671.2:g.104818864A>T	GRCh38
NC_000009.11:g.107581145A>T , CM000671.1:g.107581145A>T	GRCh37
NC_000009.10:g.106620966A>T	NCBI36
NG_007981.1:g.114292T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.3261T>A MANE Select	ENSP00000363868.3:p.Ser1087=
ENST00000678995.1:c.3261T>A	ENSP00000504612.1:p.Ser1087=
ENST00000374736.7:c.3261T>A	ENSP00000363868.3:p.Ser1087=
NM_005502.3:c.3261T>A	NP_005493.2:p.Ser1087=
XM_005251773.1:c.3261T>A	XP_005251830.1:p.Ser1087=
XM_005251776.1:c.3081T>A	XP_005251833.1:p.Ser1027=
XM_011518339.1:c.3336T>A	XP_011516641.1:p.Ser1112=
XM_011518340.1:c.3336T>A	XP_011516642.1:p.Ser1112=
XM_011518341.1:c.3336T>A	XP_011516643.1:p.Ser1112=
XM_011518342.1:c.2898T>A	XP_011516644.1:p.Ser966=
XM_011518343.1:c.3336T>A	XP_011516645.1:p.Ser1112=
XM_011518344.1:c.3336T>A	XP_011516646.1:p.Ser1112=
XM_005251773.3:c.3261T>A	XP_005251830.1:p.Ser1087=
XM_005251776.3:c.3081T>A	XP_005251833.1:p.Ser1027=
XM_011518339.3:c.3336T>A	XP_011516641.1:p.Ser1112=
XM_011518340.3:c.3336T>A	XP_011516642.1:p.Ser1112=
XM_011518341.3:c.3336T>A	XP_011516643.1:p.Ser1112=
XM_011518342.3:c.2898T>A	XP_011516644.1:p.Ser966=
XM_011518344.2:c.3336T>A	XP_011516646.1:p.Ser1112=
XM_017014378.2:c.3336T>A	XP_016869867.1:p.Ser1112=
XM_017014379.2:c.3336T>A	XP_016869868.1:p.Ser1112=
XM_017014380.2:c.3336T>A	XP_016869869.1:p.Ser1112=
XM_017014381.2:c.3336T>A	XP_016869870.1:p.Ser1112=
XM_017014382.2:c.3198T>A	XP_016869871.1:p.Ser1066=
XR_001746223.1:n.3649T>A
NM_005502.4:c.3261T>A MANE Select	NP_005493.2:p.Ser1087=