Canonical Allele Identifier: CA539837553
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs1425054238

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214978774T>C , CM000664.2:g.214978774T>C GRCh38
NC_000002.11:g.215843498T>C , CM000664.1:g.215843498T>C GRCh37
NC_000002.10:g.215551743T>C NCBI36
NG_007074.1:g.164654A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4977+30A>G MANE Select ENSP00000272895.7:n.4977+30A>G
ENST00000272895.11:c.4977+30A>G ENSP00000272895.7:n.4977+30A>G
ENST00000389661.4:c.4023+30A>G ENSP00000374312.4:n.4023+30A>G
NM_015657.3:c.4023+30A>G NP_056472.2:n.4023+30A>G
NM_173076.2:c.4977+30A>G NP_775099.2:n.4977+30A>G
NR_103740.1:n.5277+30A>G
XM_011510951.1:c.4986+30A>G XP_011509253.1:n.4986+30A>G
XM_011510952.1:c.4986+30A>G XP_011509254.1:n.4986+30A>G
XM_011510951.2:c.4986+30A>G XP_011509253.1:n.4986+30A>G
NM_173076.3:c.4977+30A>G MANE Select NP_775099.2:n.4977+30A>G
NR_103740.2:n.5475+30A>G
NM_015657.4:c.4023+30A>G NP_056472.2:n.4023+30A>G