Canonical Allele Identifier: CA2577234948

Gene: ABCA12

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978733G>T , CM000664.2:g.214978733G>T	GRCh38
NC_000002.11:g.215843457G>T , CM000664.1:g.215843457G>T	GRCh37
NC_000002.10:g.215551702G>T	NCBI36
NG_007074.1:g.164695C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4977+71C>A MANE Select	ENSP00000272895.7:n.4977+71C>A
ENST00000272895.11:c.4977+71C>A	ENSP00000272895.7:n.4977+71C>A
ENST00000389661.4:c.4023+71C>A	ENSP00000374312.4:n.4023+71C>A
NM_015657.3:c.4023+71C>A	NP_056472.2:n.4023+71C>A
NM_173076.2:c.4977+71C>A	NP_775099.2:n.4977+71C>A
NR_103740.1:n.5277+71C>A
XM_011510951.1:c.4986+71C>A	XP_011509253.1:n.4986+71C>A
XM_011510952.1:c.4986+71C>A	XP_011509254.1:n.4986+71C>A
XM_011510951.2:c.4986+71C>A	XP_011509253.1:n.4986+71C>A
NM_173076.3:c.4977+71C>A MANE Select	NP_775099.2:n.4977+71C>A
NR_103740.2:n.5475+71C>A
NM_015657.4:c.4023+71C>A	NP_056472.2:n.4023+71C>A