Canonical Allele Identifier: CA2546753034

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011236C>A , CM000664.2:g.215011236C>A	GRCh38
NC_000002.11:g.215875960C>A , CM000664.1:g.215875960C>A	GRCh37
NC_000002.10:g.215584205C>A	NCBI36
NG_007074.1:g.132192G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2332+203G>T MANE Select	ENSP00000272895.7:n.2332+203G>T
ENST00000272895.11:c.2332+203G>T	ENSP00000272895.7:n.2332+203G>T
ENST00000389661.4:c.1378+203G>T	ENSP00000374312.4:n.1378+203G>T
NM_015657.3:c.1378+203G>T	NP_056472.2:n.1378+203G>T
NM_173076.2:c.2332+203G>T	NP_775099.2:n.2332+203G>T
NR_103740.1:n.2576+203G>T
XM_011510951.1:c.2332+203G>T	XP_011509253.1:n.2332+203G>T
XM_011510952.1:c.2332+203G>T	XP_011509254.1:n.2332+203G>T
XM_011510951.2:c.2332+203G>T	XP_011509253.1:n.2332+203G>T
NM_173076.3:c.2332+203G>T MANE Select	NP_775099.2:n.2332+203G>T
NR_103740.2:n.2774+203G>T
NM_015657.4:c.1378+203G>T	NP_056472.2:n.1378+203G>T