Canonical Allele Identifier: CA2092626
Gene: ABCA12 HGNC NCBI

Linked Data

ClinVar Variation Id: 264997
ClinVar RCV Id: RCV000255481
dbSNP Id: rs767707248

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215064205G>A , CM000664.2:g.215064205G>A GRCh38
NC_000002.11:g.215928928G>A , CM000664.1:g.215928928G>A GRCh37
NC_000002.10:g.215637173G>A NCBI36
NG_007074.1:g.79224C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.178C>T MANE Select ENSP00000272895.7:p.Arg60Ter
ENST00000272895.11:c.178C>T ENSP00000272895.7:p.Arg60Ter
NM_173076.2:c.178C>T NP_775099.2:p.Arg60Ter
NR_103740.1:n.398C>T
XM_011510951.1:c.178C>T XP_011509253.1:p.Arg60Ter
XM_011510952.1:c.178C>T XP_011509254.1:p.Arg60Ter
XM_011510951.2:c.178C>T XP_011509253.1:p.Arg60Ter
NM_173076.3:c.178C>T MANE Select NP_775099.2:p.Arg60Ter
NR_103740.2:n.596C>T