Canonical Allele Identifier: CA2691057785

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104928069-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104928069T>C , CM000671.2:g.104928069T>C	GRCh38
NC_000009.11:g.107690350T>C , CM000671.1:g.107690350T>C	GRCh37
NC_000009.10:g.106730171T>C	NCBI36
NG_007981.1:g.5087A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.-227A>G MANE Select	ENSP00000363868.3:n.-227A>G
ENST00000678995.1:c.-227A>G	ENSP00000504612.1:n.-227A>G
ENST00000374733.1:c.-249A>G	ENSP00000363865.1:n.-249A>G
ENST00000374736.7:c.-227A>G	ENSP00000363868.3:n.-227A>G
ENST00000423487.6:c.-227A>G	ENSP00000416623.2:n.-227A>G
NM_005502.3:c.-227A>G	NP_005493.2:n.-227A>G
XM_005251773.1:c.-227A>G	XP_005251830.1:n.-227A>G
XM_005251776.1:c.-249A>G	XP_005251833.1:n.-249A>G
XM_011518339.1:c.-227A>G	XP_011516641.1:n.-227A>G
XM_011518341.1:c.-227A>G	XP_011516643.1:n.-227A>G
XM_011518342.1:c.-290A>G	XP_011516644.1:n.-290A>G
XM_011518343.1:c.-227A>G	XP_011516645.1:n.-227A>G
XM_011518344.1:c.-227A>G	XP_011516646.1:n.-227A>G
XR_930204.1:n.734+159T>C
XM_005251773.3:c.-227A>G	XP_005251830.1:n.-227A>G
XM_005251776.3:c.-249A>G	XP_005251833.1:n.-249A>G
XM_011518339.3:c.-227A>G	XP_011516641.1:n.-227A>G
XM_011518341.3:c.-227A>G	XP_011516643.1:n.-227A>G
XM_011518342.3:c.-290A>G	XP_011516644.1:n.-290A>G
XM_011518344.2:c.-227A>G	XP_011516646.1:n.-227A>G
XR_001746223.1:n.87A>G
XR_930204.2:n.115+159T>C
NM_005502.4:c.-227A>G MANE Select	NP_005493.2:n.-227A>G