Canonical Allele Identifier: CA350461179
Gene: ABCA12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980610T>A , CM000664.2:g.214980610T>A GRCh38
NC_000002.11:g.215845334T>A , CM000664.1:g.215845334T>A GRCh37
NC_000002.10:g.215553579T>A NCBI36
NG_007074.1:g.162818A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4613A>T MANE Select ENSP00000272895.7:p.Asp1538Val
ENST00000272895.11:c.4613A>T ENSP00000272895.7:p.Asp1538Val
ENST00000389661.4:c.3659A>T ENSP00000374312.4:p.Asp1220Val
NM_015657.3:c.3659A>T NP_056472.2:p.Asp1220Val
NM_173076.2:c.4613A>T NP_775099.2:p.Asp1538Val
NR_103740.1:n.4913A>T
XM_011510951.1:c.4622A>T XP_011509253.1:p.Asp1541Val
XM_011510952.1:c.4622A>T XP_011509254.1:p.Asp1541Val
XM_011510951.2:c.4622A>T XP_011509253.1:p.Asp1541Val
NM_173076.3:c.4613A>T MANE Select NP_775099.2:p.Asp1538Val
NR_103740.2:n.5111A>T
NM_015657.4:c.3659A>T NP_056472.2:p.Asp1220Val