Canonical Allele Identifier: CA350483663

Gene: ABCA12

Linked Data

• MyVariant Identifiers: chr2:g.215876291G>T (hg19) ; chr2:g.215011567G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011567G>T , CM000664.2:g.215011567G>T	GRCh38
NC_000002.11:g.215876291G>T , CM000664.1:g.215876291G>T	GRCh37
NC_000002.10:g.215584536G>T	NCBI36
NG_007074.1:g.131861C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2204C>A MANE Select	ENSP00000272895.7:p.Thr735Asn
ENST00000272895.11:c.2204C>A	ENSP00000272895.7:p.Thr735Asn
ENST00000389661.4:c.1250C>A	ENSP00000374312.4:p.Thr417Asn
NM_015657.3:c.1250C>A	NP_056472.2:p.Thr417Asn
NM_173076.2:c.2204C>A	NP_775099.2:p.Thr735Asn
NR_103740.1:n.2448C>A
XM_011510951.1:c.2204C>A	XP_011509253.1:p.Thr735Asn
XM_011510952.1:c.2204C>A	XP_011509254.1:p.Thr735Asn
XM_011510951.2:c.2204C>A	XP_011509253.1:p.Thr735Asn
NM_173076.3:c.2204C>A MANE Select	NP_775099.2:p.Thr735Asn
NR_103740.2:n.2646C>A
NM_015657.4:c.1250C>A	NP_056472.2:p.Thr417Asn