Canonical Allele Identifier: CA350460893
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs1244615706

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980544G>A , CM000664.2:g.214980544G>A GRCh38
NC_000002.11:g.215845268G>A , CM000664.1:g.215845268G>A GRCh37
NC_000002.10:g.215553513G>A NCBI36
NG_007074.1:g.162884C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4679C>T MANE Select ENSP00000272895.7:p.Ser1560Phe
ENST00000272895.11:c.4679C>T ENSP00000272895.7:p.Ser1560Phe
ENST00000389661.4:c.3725C>T ENSP00000374312.4:p.Ser1242Phe
NM_015657.3:c.3725C>T NP_056472.2:p.Ser1242Phe
NM_173076.2:c.4679C>T NP_775099.2:p.Ser1560Phe
NR_103740.1:n.4979C>T
XM_011510951.1:c.4688C>T XP_011509253.1:p.Ser1563Phe
XM_011510952.1:c.4688C>T XP_011509254.1:p.Ser1563Phe
XM_011510951.2:c.4688C>T XP_011509253.1:p.Ser1563Phe
NM_173076.3:c.4679C>T MANE Select NP_775099.2:p.Ser1560Phe
NR_103740.2:n.5177C>T
NM_015657.4:c.3725C>T NP_056472.2:p.Ser1242Phe