Canonical Allele Identifier: CA1327177475
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215019503A= , CM000664.2:g.215019503A= GRCh38
NC_000002.11:g.215884227A= , CM000664.1:g.215884227A= GRCh37
NC_000002.10:g.215592472A= NCBI36
NG_007074.1:g.123925T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.1544+37T= MANE Select ENSP00000272895.7:n.1544+37T=
ENST00000272895.11:c.1544+37T= ENSP00000272895.7:n.1544+37T=
ENST00000389661.4:c.590+37T= ENSP00000374312.4:n.590+37T=
NM_015657.3:c.590+37T= NP_056472.2:n.590+37T=
NM_173076.2:c.1544+37T= NP_775099.2:n.1544+37T=
NR_103740.1:n.1788+37T=
XM_011510951.1:c.1544+37T= XP_011509253.1:n.1544+37T=
XM_011510952.1:c.1544+37T= XP_011509254.1:n.1544+37T=
XM_011510951.2:c.1544+37T= XP_011509253.1:n.1544+37T=
NM_173076.3:c.1544+37T= MANE Select NP_775099.2:n.1544+37T=
NR_103740.2:n.1986+37T=
NM_015657.4:c.590+37T= NP_056472.2:n.590+37T=