Canonical Allele Identifier: CA2091993
Gene: ABCA12 HGNC NCBI

Linked Data

ClinVar Variation Id: 262824
dbSNP Id: rs7560008

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011442A>T , CM000664.2:g.215011442A>T GRCh38
NC_000002.11:g.215876166A>T , CM000664.1:g.215876166A>T GRCh37
NC_000002.10:g.215584411A>T NCBI36
NG_007074.1:g.131986T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.2329T>A MANE Select ENSP00000272895.7:p.Ser777Thr
ENST00000272895.11:c.2329T>A ENSP00000272895.7:p.Ser777Thr
ENST00000389661.4:c.1375T>A ENSP00000374312.4:p.Ser459Thr
NM_015657.3:c.1375T>A NP_056472.2:p.Ser459Thr
NM_173076.2:c.2329T>A NP_775099.2:p.Ser777Thr
NR_103740.1:n.2573T>A
XM_011510951.1:c.2329T>A XP_011509253.1:p.Ser777Thr
XM_011510952.1:c.2329T>A XP_011509254.1:p.Ser777Thr
XM_011510951.2:c.2329T>A XP_011509253.1:p.Ser777Thr
NM_173076.3:c.2329T>A MANE Select NP_775099.2:p.Ser777Thr
NR_103740.2:n.2771T>A
NM_015657.4:c.1375T>A NP_056472.2:p.Ser459Thr