Canonical Allele Identifier: CA431148967
Gene: ABCA12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.215845336C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980612C>T , CM000664.2:g.214980612C>T GRCh38
NC_000002.11:g.215845336C>T , CM000664.1:g.215845336C>T GRCh37
NC_000002.10:g.215553581C>T NCBI36
NG_007074.1:g.162816G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4611G>A MANE Select ENSP00000272895.7:p.Leu1537=
ENST00000272895.11:c.4611G>A ENSP00000272895.7:p.Leu1537=
ENST00000389661.4:c.3657G>A ENSP00000374312.4:p.Leu1219=
NM_015657.3:c.3657G>A NP_056472.2:p.Leu1219=
NM_173076.2:c.4611G>A NP_775099.2:p.Leu1537=
NR_103740.1:n.4911G>A
XM_011510951.1:c.4620G>A XP_011509253.1:p.Leu1540=
XM_011510952.1:c.4620G>A XP_011509254.1:p.Leu1540=
XM_011510951.2:c.4620G>A XP_011509253.1:p.Leu1540=
NM_173076.3:c.4611G>A MANE Select NP_775099.2:p.Leu1537=
NR_103740.2:n.5109G>A
NM_015657.4:c.3657G>A NP_056472.2:p.Leu1219=