Canonical Allele Identifier: CA1327150065
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214953900A= , CM000664.2:g.214953900A= GRCh38
NC_000002.11:g.215818624A= , CM000664.1:g.215818624A= GRCh37
NC_000002.10:g.215526869A= NCBI36
NG_007074.1:g.189528T=

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.6601T= (ABCA12) MANE Select ENSP00000272895.7:p.Phe2201=
ENST00000272895.11:c.6601T= (ABCA12) ENSP00000272895.7:p.Phe2201=
ENST00000389661.4:c.5647T= (ABCA12) ENSP00000374312.4:p.Phe1883=
NM_015657.3:c.5647T= (ABCA12) NP_056472.2:p.Phe1883=
NM_173076.2:c.6601T= (ABCA12) NP_775099.2:p.Phe2201=
NR_103740.1:n.6901T= (ABCA12)
NR_110292.1:n.444+5953A= (SNHG31)
XM_011510951.1:c.6610T= (ABCA12) XP_011509253.1:p.Phe2204=
XM_011510951.2:c.6610T= (ABCA12) XP_011509253.1:p.Phe2204=
NM_173076.3:c.6601T= (ABCA12) MANE Select NP_775099.2:p.Phe2201=
NR_103740.2:n.7099T= (ABCA12)
NM_015657.4:c.5647T= (ABCA12) NP_056472.2:p.Phe1883=