Canonical Allele Identifier: CA350469493
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs1699898723

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214990960T>A , CM000664.2:g.214990960T>A GRCh38
NC_000002.11:g.215855684T>A , CM000664.1:g.215855684T>A GRCh37
NC_000002.10:g.215563929T>A NCBI36
NG_007074.1:g.152468A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.3366A>T MANE Select ENSP00000272895.7:p.Leu1122Phe
ENST00000272895.11:c.3366A>T ENSP00000272895.7:p.Leu1122Phe
ENST00000389661.4:c.2412A>T ENSP00000374312.4:p.Leu804Phe
NM_015657.3:c.2412A>T NP_056472.2:p.Leu804Phe
NM_173076.2:c.3366A>T NP_775099.2:p.Leu1122Phe
NR_103740.1:n.3666A>T
XM_011510951.1:c.3366A>T XP_011509253.1:p.Leu1122Phe
XM_011510952.1:c.3366A>T XP_011509254.1:p.Leu1122Phe
XM_011510951.2:c.3366A>T XP_011509253.1:p.Leu1122Phe
NM_173076.3:c.3366A>T MANE Select NP_775099.2:p.Leu1122Phe
NR_103740.2:n.3864A>T
NM_015657.4:c.2412A>T NP_056472.2:p.Leu804Phe