Canonical Allele Identifier: CA64844204
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs1048555065

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011381G>A , CM000664.2:g.215011381G>A GRCh38
NC_000002.11:g.215876105G>A , CM000664.1:g.215876105G>A GRCh37
NC_000002.10:g.215584350G>A NCBI36
NG_007074.1:g.132047C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.2332+58C>T MANE Select ENSP00000272895.7:n.2332+58C>T
ENST00000272895.11:c.2332+58C>T ENSP00000272895.7:n.2332+58C>T
ENST00000389661.4:c.1378+58C>T ENSP00000374312.4:n.1378+58C>T
NM_015657.3:c.1378+58C>T NP_056472.2:n.1378+58C>T
NM_173076.2:c.2332+58C>T NP_775099.2:n.2332+58C>T
NR_103740.1:n.2576+58C>T
XM_011510951.1:c.2332+58C>T XP_011509253.1:n.2332+58C>T
XM_011510952.1:c.2332+58C>T XP_011509254.1:n.2332+58C>T
XM_011510951.2:c.2332+58C>T XP_011509253.1:n.2332+58C>T
NM_173076.3:c.2332+58C>T MANE Select NP_775099.2:n.2332+58C>T
NR_103740.2:n.2774+58C>T
NM_015657.4:c.1378+58C>T NP_056472.2:n.1378+58C>T