Canonical Allele Identifier: CA2091410
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs771653328

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980510C>G , CM000664.2:g.214980510C>G GRCh38
NC_000002.11:g.215845234C>G , CM000664.1:g.215845234C>G GRCh37
NC_000002.10:g.215553479C>G NCBI36
NG_007074.1:g.162918G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4713G>C MANE Select ENSP00000272895.7:p.Gly1571=
ENST00000272895.11:c.4713G>C ENSP00000272895.7:p.Gly1571=
ENST00000389661.4:c.3759G>C ENSP00000374312.4:p.Gly1253=
NM_015657.3:c.3759G>C NP_056472.2:p.Gly1253=
NM_173076.2:c.4713G>C NP_775099.2:p.Gly1571=
NR_103740.1:n.5013G>C
XM_011510951.1:c.4722G>C XP_011509253.1:p.Gly1574=
XM_011510952.1:c.4722G>C XP_011509254.1:p.Gly1574=
XM_011510951.2:c.4722G>C XP_011509253.1:p.Gly1574=
NM_173076.3:c.4713G>C MANE Select NP_775099.2:p.Gly1571=
NR_103740.2:n.5211G>C
NM_015657.4:c.3759G>C NP_056472.2:p.Gly1253=