Canonical Allele Identifier: CA2092061

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215012014G>T , CM000664.2:g.215012014G>T	GRCh38
NC_000002.11:g.215876738G>T , CM000664.1:g.215876738G>T	GRCh37
NC_000002.10:g.215584983G>T	NCBI36
NG_007074.1:g.131414C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_173076.3:c.2078C>A MANE Select	NP_775099.2:p.Ser693Tyr
ENST00000272895.12:c.2078C>A MANE Select	ENSP00000272895.7:p.Ser693Tyr
NM_015657.3:c.1124C>A	NP_056472.2:p.Ser375Tyr
NM_015657.4:c.1124C>A	NP_056472.2:p.Ser375Tyr
NM_173076.2:c.2078C>A	NP_775099.2:p.Ser693Tyr
NR_103740.1:n.2322C>A
NR_103740.2:n.2520C>A
ENST00000272895.11:c.2078C>A	ENSP00000272895.7:p.Ser693Tyr
ENST00000389661.4:c.1124C>A	ENSP00000374312.4:p.Ser375Tyr
XM_011510951.1:c.2078C>A	XP_011509253.1:p.Ser693Tyr
XM_011510951.2:c.2078C>A	XP_011509253.1:p.Ser693Tyr
XM_011510952.1:c.2078C>A	XP_011509254.1:p.Ser693Tyr