Canonical Allele Identifier: CA350459422
Gene: ABCA12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214978803C>T , CM000664.2:g.214978803C>T GRCh38
NC_000002.11:g.215843527C>T , CM000664.1:g.215843527C>T GRCh37
NC_000002.10:g.215551772C>T NCBI36
NG_007074.1:g.164625G>A

Transcript Alleles

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