Canonical Allele Identifier: CA350461214
Gene: ABCA12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980619T>C , CM000664.2:g.214980619T>C GRCh38
NC_000002.11:g.215845343T>C , CM000664.1:g.215845343T>C GRCh37
NC_000002.10:g.215553588T>C NCBI36
NG_007074.1:g.162809A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4604A>G MANE Select ENSP00000272895.7:p.His1535Arg
ENST00000272895.11:c.4604A>G ENSP00000272895.7:p.His1535Arg
ENST00000389661.4:c.3650A>G ENSP00000374312.4:p.His1217Arg
NM_015657.3:c.3650A>G NP_056472.2:p.His1217Arg
NM_173076.2:c.4604A>G NP_775099.2:p.His1535Arg
NR_103740.1:n.4904A>G
XM_011510951.1:c.4613A>G XP_011509253.1:p.His1538Arg
XM_011510952.1:c.4613A>G XP_011509254.1:p.His1538Arg
XM_011510951.2:c.4613A>G XP_011509253.1:p.His1538Arg
NM_173076.3:c.4604A>G MANE Select NP_775099.2:p.His1535Arg
NR_103740.2:n.5102A>G
NM_015657.4:c.3650A>G NP_056472.2:p.His1217Arg