Canonical Allele Identifier: CA1327161818
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214982145G= , CM000664.2:g.214982145G= GRCh38
NC_000002.11:g.215846869G= , CM000664.1:g.215846869G= GRCh37
NC_000002.10:g.215555114G= NCBI36
NG_007074.1:g.161283C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4579+42C= MANE Select ENSP00000272895.7:n.4579+42C=
ENST00000272895.11:c.4579+42C= ENSP00000272895.7:n.4579+42C=
ENST00000389661.4:c.3625+42C= ENSP00000374312.4:n.3625+42C=
NM_015657.3:c.3625+42C= NP_056472.2:n.3625+42C=
NM_173076.2:c.4579+42C= NP_775099.2:n.4579+42C=
NR_103740.1:n.4879+42C=
XM_011510951.1:c.4588+42C= XP_011509253.1:n.4588+42C=
XM_011510952.1:c.4588+42C= XP_011509254.1:n.4588+42C=
XM_011510951.2:c.4588+42C= XP_011509253.1:n.4588+42C=
NM_173076.3:c.4579+42C= MANE Select NP_775099.2:n.4579+42C=
NR_103740.2:n.5077+42C=
NM_015657.4:c.3625+42C= NP_056472.2:n.3625+42C=