Canonical Allele Identifier: CA1327160234
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214978608T= , CM000664.2:g.214978608T= GRCh38
NC_000002.11:g.215843332T= , CM000664.1:g.215843332T= GRCh37
NC_000002.10:g.215551577T= NCBI36
NG_007074.1:g.164820A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4978-142A= MANE Select ENSP00000272895.7:n.4978-142A=
ENST00000272895.11:c.4978-142A= ENSP00000272895.7:n.4978-142A=
ENST00000389661.4:c.4024-142A= ENSP00000374312.4:n.4024-142A=
NM_015657.3:c.4024-142A= NP_056472.2:n.4024-142A=
NM_173076.2:c.4978-142A= NP_775099.2:n.4978-142A=
NR_103740.1:n.5278-142A=
XM_011510951.1:c.4987-142A= XP_011509253.1:n.4987-142A=
XM_011510952.1:c.4987-142A= XP_011509254.1:n.4987-142A=
XM_011510951.2:c.4987-142A= XP_011509253.1:n.4987-142A=
NM_173076.3:c.4978-142A= MANE Select NP_775099.2:n.4978-142A=
NR_103740.2:n.5476-142A=
NM_015657.4:c.4024-142A= NP_056472.2:n.4024-142A=