Canonical Allele Identifier: CA2091407

Gene: ABCA12

Linked Data

• dbSNP Id: rs754519603
• ExAC: 2:215845222 C / T
• gnomAD v2: 2-215845222-C-T
• gnomAD v3: 2-214980498-C-T
• gnomAD v4: 2-214980498-C-T
• MyVariant Identifiers: chr2:g.215845222C>T (hg19) ; chr2:g.214980498C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980498C>T , CM000664.2:g.214980498C>T	GRCh38
NC_000002.11:g.215845222C>T , CM000664.1:g.215845222C>T	GRCh37
NC_000002.10:g.215553467C>T	NCBI36
NG_007074.1:g.162930G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4725G>A MANE Select	ENSP00000272895.7:p.Thr1575=
ENST00000272895.11:c.4725G>A	ENSP00000272895.7:p.Thr1575=
ENST00000389661.4:c.3771G>A	ENSP00000374312.4:p.Thr1257=
NM_015657.3:c.3771G>A	NP_056472.2:p.Thr1257=
NM_173076.2:c.4725G>A	NP_775099.2:p.Thr1575=
NR_103740.1:n.5025G>A
XM_011510951.1:c.4734G>A	XP_011509253.1:p.Thr1578=
XM_011510952.1:c.4734G>A	XP_011509254.1:p.Thr1578=
XM_011510951.2:c.4734G>A	XP_011509253.1:p.Thr1578=
NM_173076.3:c.4725G>A MANE Select	NP_775099.2:p.Thr1575=
NR_103740.2:n.5223G>A
NM_015657.4:c.3771G>A	NP_056472.2:p.Thr1257=