Canonical Allele Identifier: CA350483399
Gene: ABCA12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011448T>A , CM000664.2:g.215011448T>A GRCh38
NC_000002.11:g.215876172T>A , CM000664.1:g.215876172T>A GRCh37
NC_000002.10:g.215584417T>A NCBI36
NG_007074.1:g.131980A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.2323A>T MANE Select ENSP00000272895.7:p.Ile775Leu
ENST00000272895.11:c.2323A>T ENSP00000272895.7:p.Ile775Leu
ENST00000389661.4:c.1369A>T ENSP00000374312.4:p.Ile457Leu
NM_015657.3:c.1369A>T NP_056472.2:p.Ile457Leu
NM_173076.2:c.2323A>T NP_775099.2:p.Ile775Leu
NR_103740.1:n.2567A>T
XM_011510951.1:c.2323A>T XP_011509253.1:p.Ile775Leu
XM_011510952.1:c.2323A>T XP_011509254.1:p.Ile775Leu
XM_011510951.2:c.2323A>T XP_011509253.1:p.Ile775Leu
NM_173076.3:c.2323A>T MANE Select NP_775099.2:p.Ile775Leu
NR_103740.2:n.2765A>T
NM_015657.4:c.1369A>T NP_056472.2:p.Ile457Leu