Canonical Allele Identifier: CA1327160220
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214978570A= , CM000664.2:g.214978570A= GRCh38
NC_000002.11:g.215843294A= , CM000664.1:g.215843294A= GRCh37
NC_000002.10:g.215551539A= NCBI36
NG_007074.1:g.164858T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4978-104T= MANE Select ENSP00000272895.7:n.4978-104T=
ENST00000272895.11:c.4978-104T= ENSP00000272895.7:n.4978-104T=
ENST00000389661.4:c.4024-104T= ENSP00000374312.4:n.4024-104T=
NM_015657.3:c.4024-104T= NP_056472.2:n.4024-104T=
NM_173076.2:c.4978-104T= NP_775099.2:n.4978-104T=
NR_103740.1:n.5278-104T=
XM_011510951.1:c.4987-104T= XP_011509253.1:n.4987-104T=
XM_011510952.1:c.4987-104T= XP_011509254.1:n.4987-104T=
XM_011510951.2:c.4987-104T= XP_011509253.1:n.4987-104T=
NM_173076.3:c.4978-104T= MANE Select NP_775099.2:n.4978-104T=
NR_103740.2:n.5476-104T=
NM_015657.4:c.4024-104T= NP_056472.2:n.4024-104T=