Canonical Allele Identifier: CA1327165408
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214990946A= , CM000664.2:g.214990946A= GRCh38
NC_000002.11:g.215855670A= , CM000664.1:g.215855670A= GRCh37
NC_000002.10:g.215563915A= NCBI36
NG_007074.1:g.152482T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.3380T= MANE Select ENSP00000272895.7:p.Val1127=
ENST00000272895.11:c.3380T= ENSP00000272895.7:p.Val1127=
ENST00000389661.4:c.2426T= ENSP00000374312.4:p.Val809=
NM_015657.3:c.2426T= NP_056472.2:p.Val809=
NM_173076.2:c.3380T= NP_775099.2:p.Val1127=
NR_103740.1:n.3680T=
XM_011510951.1:c.3380T= XP_011509253.1:p.Val1127=
XM_011510952.1:c.3380T= XP_011509254.1:p.Val1127=
XM_011510951.2:c.3380T= XP_011509253.1:p.Val1127=
NM_173076.3:c.3380T= MANE Select NP_775099.2:p.Val1127=
NR_103740.2:n.3878T=
NM_015657.4:c.2426T= NP_056472.2:p.Val809=