Canonical Allele Identifier: CA1327177614
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs1700588714

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215019830T>A , CM000664.2:g.215019830T>A GRCh38
NC_000002.11:g.215884554T>A , CM000664.1:g.215884554T>A GRCh37
NC_000002.10:g.215592799T>A NCBI36
NG_007074.1:g.123598A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.1288-34A>T MANE Select ENSP00000272895.7:n.1288-34A>T
ENST00000272895.11:c.1288-34A>T ENSP00000272895.7:n.1288-34A>T
ENST00000389661.4:c.334-34A>T ENSP00000374312.4:n.334-34A>T
NM_015657.3:c.334-34A>T NP_056472.2:n.334-34A>T
NM_173076.2:c.1288-34A>T NP_775099.2:n.1288-34A>T
NR_103740.1:n.1532-34A>T
XM_011510951.1:c.1288-34A>T XP_011509253.1:n.1288-34A>T
XM_011510952.1:c.1288-34A>T XP_011509254.1:n.1288-34A>T
XM_011510951.2:c.1288-34A>T XP_011509253.1:n.1288-34A>T
NM_173076.3:c.1288-34A>T MANE Select NP_775099.2:n.1288-34A>T
NR_103740.2:n.1730-34A>T
NM_015657.4:c.334-34A>T NP_056472.2:n.334-34A>T