Canonical Allele Identifier: CA120490

Gene: ABCA1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104788469A>G , CM000671.2:g.104788469A>G	GRCh38
NC_000009.11:g.107550750A>G , CM000671.1:g.107550750A>G	GRCh37
NC_000009.10:g.106590571A>G	NCBI36
NG_007981.1:g.144687T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.6026T>C MANE Select	ENSP00000363868.3:p.Phe2009Ser
ENST00000678995.1:c.6032T>C	ENSP00000504612.1:p.Phe2011Ser
ENST00000374736.7:c.6026T>C	ENSP00000363868.3:p.Phe2009Ser
NM_005502.3:c.6026T>C	NP_005493.2:p.Phe2009Ser
XM_005251773.1:c.6032T>C	XP_005251830.1:p.Phe2011Ser
XM_005251776.1:c.5852T>C	XP_005251833.1:p.Phe1951Ser
XM_011518339.1:c.6107T>C	XP_011516641.1:p.Phe2036Ser
XM_011518340.1:c.6107T>C	XP_011516642.1:p.Phe2036Ser
XM_011518341.1:c.6101T>C	XP_011516643.1:p.Phe2034Ser
XM_011518342.1:c.5669T>C	XP_011516644.1:p.Phe1890Ser
XM_011518343.1:c.6107T>C	XP_011516645.1:p.Phe2036Ser
XM_005251773.3:c.6032T>C	XP_005251830.1:p.Phe2011Ser
XM_005251776.3:c.5852T>C	XP_005251833.1:p.Phe1951Ser
XM_011518339.3:c.6107T>C	XP_011516641.1:p.Phe2036Ser
XM_011518340.3:c.6107T>C	XP_011516642.1:p.Phe2036Ser
XM_011518341.3:c.6101T>C	XP_011516643.1:p.Phe2034Ser
XM_011518342.3:c.5669T>C	XP_011516644.1:p.Phe1890Ser
XM_017014378.2:c.6107T>C	XP_016869867.1:p.Phe2036Ser
XM_017014379.2:c.6107T>C	XP_016869868.1:p.Phe2036Ser
XM_017014380.2:c.6107T>C	XP_016869869.1:p.Phe2036Ser
XM_017014381.2:c.6107T>C	XP_016869870.1:p.Phe2036Ser
XM_017014382.2:c.5969T>C	XP_016869871.1:p.Phe1990Ser
XR_001746223.1:n.6420T>C
NM_005502.4:c.6026T>C MANE Select	NP_005493.2:p.Phe2009Ser