Canonical Allele Identifier: CA1869965099
Gene: ABCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1826493726

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104928074G>C , CM000671.2:g.104928074G>C GRCh38
NC_000009.11:g.107690355G>C , CM000671.1:g.107690355G>C GRCh37
NC_000009.10:g.106730176G>C NCBI36
NG_007981.1:g.5082C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.-232C>G MANE Select ENSP00000363868.3:n.-232C>G
ENST00000678995.1:c.-232C>G ENSP00000504612.1:n.-232C>G
ENST00000374733.1:c.-254C>G ENSP00000363865.1:n.-254C>G
ENST00000374736.7:c.-232C>G ENSP00000363868.3:n.-232C>G
ENST00000423487.6:c.-232C>G ENSP00000416623.2:n.-232C>G
NM_005502.3:c.-232C>G NP_005493.2:n.-232C>G
XM_005251773.1:c.-232C>G XP_005251830.1:n.-232C>G
XM_005251776.1:c.-254C>G XP_005251833.1:n.-254C>G
XM_011518339.1:c.-232C>G XP_011516641.1:n.-232C>G
XM_011518341.1:c.-232C>G XP_011516643.1:n.-232C>G
XM_011518342.1:c.-295C>G XP_011516644.1:n.-295C>G
XM_011518343.1:c.-232C>G XP_011516645.1:n.-232C>G
XM_011518344.1:c.-232C>G XP_011516646.1:n.-232C>G
XR_930204.1:n.734+164G>C
XM_005251773.3:c.-232C>G XP_005251830.1:n.-232C>G
XM_005251776.3:c.-254C>G XP_005251833.1:n.-254C>G
XM_011518339.3:c.-232C>G XP_011516641.1:n.-232C>G
XM_011518341.3:c.-232C>G XP_011516643.1:n.-232C>G
XM_011518342.3:c.-295C>G XP_011516644.1:n.-295C>G
XM_011518344.2:c.-232C>G XP_011516646.1:n.-232C>G
XR_001746223.1:n.82C>G
XR_930204.2:n.115+164G>C
NM_005502.4:c.-232C>G MANE Select NP_005493.2:n.-232C>G