Canonical Allele Identifier: CA764596290
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs1424206019

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214978758G>A , CM000664.2:g.214978758G>A GRCh38
NC_000002.11:g.215843482G>A , CM000664.1:g.215843482G>A GRCh37
NC_000002.10:g.215551727G>A NCBI36
NG_007074.1:g.164670C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4977+46C>T MANE Select ENSP00000272895.7:n.4977+46C>T
ENST00000272895.11:c.4977+46C>T ENSP00000272895.7:n.4977+46C>T
ENST00000389661.4:c.4023+46C>T ENSP00000374312.4:n.4023+46C>T
NM_015657.3:c.4023+46C>T NP_056472.2:n.4023+46C>T
NM_173076.2:c.4977+46C>T NP_775099.2:n.4977+46C>T
NR_103740.1:n.5277+46C>T
XM_011510951.1:c.4986+46C>T XP_011509253.1:n.4986+46C>T
XM_011510952.1:c.4986+46C>T XP_011509254.1:n.4986+46C>T
XM_011510951.2:c.4986+46C>T XP_011509253.1:n.4986+46C>T
NM_173076.3:c.4977+46C>T MANE Select NP_775099.2:n.4977+46C>T
NR_103740.2:n.5475+46C>T
NM_015657.4:c.4023+46C>T NP_056472.2:n.4023+46C>T