Canonical Allele Identifier: CA350463833

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214986566T>G , CM000664.2:g.214986566T>G	GRCh38
NC_000002.11:g.215851290T>G , CM000664.1:g.215851290T>G	GRCh37
NC_000002.10:g.215559535T>G	NCBI36
NG_007074.1:g.156862A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4139A>C MANE Select	ENSP00000272895.7:p.Asn1380Thr
ENST00000272895.11:c.4139A>C	ENSP00000272895.7:p.Asn1380Thr
ENST00000389661.4:c.3185A>C	ENSP00000374312.4:p.Asn1062Thr
NM_015657.3:c.3185A>C	NP_056472.2:p.Asn1062Thr
NM_173076.2:c.4139A>C	NP_775099.2:p.Asn1380Thr
NR_103740.1:n.4439A>C
XM_011510951.1:c.4148A>C	XP_011509253.1:p.Asn1383Thr
XM_011510952.1:c.4148A>C	XP_011509254.1:p.Asn1383Thr
XM_011510951.2:c.4148A>C	XP_011509253.1:p.Asn1383Thr
NM_173076.3:c.4139A>C MANE Select	NP_775099.2:p.Asn1380Thr
NR_103740.2:n.4637A>C
NM_015657.4:c.3185A>C	NP_056472.2:p.Asn1062Thr