Canonical Allele Identifier: CA2091230

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214974853G>A , CM000664.2:g.214974853G>A	GRCh38
NC_000002.11:g.215839577G>A , CM000664.1:g.215839577G>A	GRCh37
NC_000002.10:g.215547822G>A	NCBI36
NG_007074.1:g.168575C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173076.3:c.5393C>T MANE Select	NP_775099.2:p.Pro1798Leu
ENST00000272895.12:c.5393C>T MANE Select	ENSP00000272895.7:p.Pro1798Leu
NM_015657.3:c.4439C>T	NP_056472.2:p.Pro1480Leu
NM_015657.4:c.4439C>T	NP_056472.2:p.Pro1480Leu
NM_173076.2:c.5393C>T	NP_775099.2:p.Pro1798Leu
NR_103740.1:n.5693C>T
NR_103740.2:n.5891C>T
ENST00000272895.11:c.5393C>T	ENSP00000272895.7:p.Pro1798Leu
ENST00000389661.4:c.4439C>T	ENSP00000374312.4:p.Pro1480Leu
XM_011510951.1:c.5402C>T	XP_011509253.1:p.Pro1801Leu
XM_011510951.2:c.5402C>T	XP_011509253.1:p.Pro1801Leu
XM_011510952.1:c.5402C>T	XP_011509254.1:p.Pro1801Leu