Canonical Allele Identifier: CA5169493
Gene: ABCA1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.104889163T>C
GRCh37 chr9:g.107651444T>C
gnomAD v2:
9:107651444 T / C
gnomAD v3:
9:104889163 T / C
gnomAD v4:
chr9-104889163-T-C
Joint Max Group AF 0.00178594 (MID)
Genomes Max Group AF 0.00068985 (NFE)
Exomes Max Group AF 0.0014666 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104889163T>C , CM000671.2:g.104889163T>C GRCh38
NC_000009.11:g.107651444T>C , CM000671.1:g.107651444T>C GRCh37
NC_000009.10:g.106691265T>C NCBI36
NG_007981.1:g.43993A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.99A>G MANE Select ENSP00000363868.3:p.Leu33=
ENST00000678995.1:c.99A>G ENSP00000504612.1:p.Leu33=
ENST00000374733.1:c.-82A>G ENSP00000363865.1:n.-82A>G
ENST00000374736.7:c.99A>G ENSP00000363868.3:p.Leu33=
ENST00000423487.6:c.99A>G ENSP00000416623.2:p.Leu33=
NM_005502.3:c.99A>G NP_005493.2:p.Leu33=
XM_005251773.1:c.99A>G XP_005251830.1:p.Leu33=
XM_005251776.1:c.-82A>G XP_005251833.1:n.-82A>G
XM_011518339.1:c.174A>G XP_011516641.1:p.Leu58=
XM_011518340.1:c.174A>G XP_011516642.1:p.Leu58=
XM_011518341.1:c.174A>G XP_011516643.1:p.Leu58=
XM_011518342.1:c.-123A>G XP_011516644.1:n.-123A>G
XM_011518343.1:c.174A>G XP_011516645.1:p.Leu58=
XM_011518344.1:c.174A>G XP_011516646.1:p.Leu58=
XM_005251773.3:c.99A>G XP_005251830.1:p.Leu33=
XM_005251776.3:c.-82A>G XP_005251833.1:n.-82A>G
XM_011518339.3:c.174A>G XP_011516641.1:p.Leu58=
XM_011518340.3:c.174A>G XP_011516642.1:p.Leu58=
XM_011518341.3:c.174A>G XP_011516643.1:p.Leu58=
XM_011518342.3:c.-123A>G XP_011516644.1:n.-123A>G
XM_011518344.2:c.174A>G XP_011516646.1:p.Leu58=
XM_017014378.2:c.174A>G XP_016869867.1:p.Leu58=
XM_017014379.2:c.174A>G XP_016869868.1:p.Leu58=
XM_017014380.2:c.174A>G XP_016869869.1:p.Leu58=
XM_017014381.2:c.174A>G XP_016869870.1:p.Leu58=
XM_017014382.2:c.36A>G XP_016869871.1:p.Leu12=
XR_001746223.1:n.487A>G
NM_005502.4:c.99A>G MANE Select NP_005493.2:p.Leu33=
Search 100 bp 5'
Search 100 bp 3'