Canonical Allele Identifier: CA350447898

Gene: ABCA12

Linked Data

• MyVariant Identifiers: chr2:g.215884465A>T (hg19) ; chr2:g.215019741A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019741A>T , CM000664.2:g.215019741A>T	GRCh38
NC_000002.11:g.215884465A>T , CM000664.1:g.215884465A>T	GRCh37
NC_000002.10:g.215592710A>T	NCBI36
NG_007074.1:g.123687T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1343T>A MANE Select	ENSP00000272895.7:p.Leu448Ter
ENST00000272895.11:c.1343T>A	ENSP00000272895.7:p.Leu448Ter
ENST00000389661.4:c.389T>A	ENSP00000374312.4:p.Leu130Ter
NM_015657.3:c.389T>A	NP_056472.2:p.Leu130Ter
NM_173076.2:c.1343T>A	NP_775099.2:p.Leu448Ter
NR_103740.1:n.1587T>A
XM_011510951.1:c.1343T>A	XP_011509253.1:p.Leu448Ter
XM_011510952.1:c.1343T>A	XP_011509254.1:p.Leu448Ter
XM_011510951.2:c.1343T>A	XP_011509253.1:p.Leu448Ter
NM_173076.3:c.1343T>A MANE Select	NP_775099.2:p.Leu448Ter
NR_103740.2:n.1785T>A
NM_015657.4:c.389T>A	NP_056472.2:p.Leu130Ter