Canonical Allele Identifier: CA350460673
Gene: ABCA12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980486C>A , CM000664.2:g.214980486C>A GRCh38
NC_000002.11:g.215845210C>A , CM000664.1:g.215845210C>A GRCh37
NC_000002.10:g.215553455C>A NCBI36
NG_007074.1:g.162942G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4737G>T MANE Select ENSP00000272895.7:p.Lys1579Asn
ENST00000272895.11:c.4737G>T ENSP00000272895.7:p.Lys1579Asn
ENST00000389661.4:c.3783G>T ENSP00000374312.4:p.Lys1261Asn
NM_015657.3:c.3783G>T NP_056472.2:p.Lys1261Asn
NM_173076.2:c.4737G>T NP_775099.2:p.Lys1579Asn
NR_103740.1:n.5037G>T
XM_011510951.1:c.4746G>T XP_011509253.1:p.Lys1582Asn
XM_011510952.1:c.4746G>T XP_011509254.1:p.Lys1582Asn
XM_011510951.2:c.4746G>T XP_011509253.1:p.Lys1582Asn
NM_173076.3:c.4737G>T MANE Select NP_775099.2:p.Lys1579Asn
NR_103740.2:n.5235G>T
NM_015657.4:c.3783G>T NP_056472.2:p.Lys1261Asn