Canonical Allele Identifier: CA350461199
Gene: ABCA12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980616T>A , CM000664.2:g.214980616T>A GRCh38
NC_000002.11:g.215845340T>A , CM000664.1:g.215845340T>A GRCh37
NC_000002.10:g.215553585T>A NCBI36
NG_007074.1:g.162812A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4607A>T MANE Select ENSP00000272895.7:p.His1536Leu
ENST00000272895.11:c.4607A>T ENSP00000272895.7:p.His1536Leu
ENST00000389661.4:c.3653A>T ENSP00000374312.4:p.His1218Leu
NM_015657.3:c.3653A>T NP_056472.2:p.His1218Leu
NM_173076.2:c.4607A>T NP_775099.2:p.His1536Leu
NR_103740.1:n.4907A>T
XM_011510951.1:c.4616A>T XP_011509253.1:p.His1539Leu
XM_011510952.1:c.4616A>T XP_011509254.1:p.His1539Leu
XM_011510951.2:c.4616A>T XP_011509253.1:p.His1539Leu
NM_173076.3:c.4607A>T MANE Select NP_775099.2:p.His1536Leu
NR_103740.2:n.5105A>T
NM_015657.4:c.3653A>T NP_056472.2:p.His1218Leu