Canonical Allele Identifier: CA1327172344
Community Standard Title: NM_173076.3(ABCA12):c.2531A= (p.Asp844=)
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215007788T= , CM000664.2:g.215007788T= GRCh38
NC_000002.11:g.215872512T= , CM000664.1:g.215872512T= GRCh37
NC_000002.10:g.215580757T= NCBI36
NG_007074.1:g.135640A=

Transcript Alleles

HGVS Amino-acid Change
NM_173076.3:c.2531A= MANE Select NP_775099.2:p.Asp844=
ENST00000272895.12:c.2531A= MANE Select ENSP00000272895.7:p.Asp844=
NM_015657.3:c.1577A= NP_056472.2:p.Asp526=
NM_015657.4:c.1577A= NP_056472.2:p.Asp526=
NM_173076.2:c.2531A= NP_775099.2:p.Asp844=
NR_103740.1:n.2775A=
NR_103740.2:n.2973A=
ENST00000272895.11:c.2531A= ENSP00000272895.7:p.Asp844=
ENST00000389661.4:c.1577A= ENSP00000374312.4:p.Asp526=
XM_011510951.1:c.2531A= XP_011509253.1:p.Asp844=
XM_011510951.2:c.2531A= XP_011509253.1:p.Asp844=
XM_011510952.1:c.2531A= XP_011509254.1:p.Asp844=