Canonical Allele Identifier: CA1042216793

Gene: ABCA12

Linked Data

• dbSNP Id: rs1379372167
• gnomAD v3: 2-214978780-A-G
• gnomAD v4: 2-214978780-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978780A>G , CM000664.2:g.214978780A>G	GRCh38
NC_000002.11:g.215843504A>G , CM000664.1:g.215843504A>G	GRCh37
NC_000002.10:g.215551749A>G	NCBI36
NG_007074.1:g.164648T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4977+24T>C MANE Select	ENSP00000272895.7:n.4977+24T>C
ENST00000272895.11:c.4977+24T>C	ENSP00000272895.7:n.4977+24T>C
ENST00000389661.4:c.4023+24T>C	ENSP00000374312.4:n.4023+24T>C
NM_015657.3:c.4023+24T>C	NP_056472.2:n.4023+24T>C
NM_173076.2:c.4977+24T>C	NP_775099.2:n.4977+24T>C
NR_103740.1:n.5277+24T>C
XM_011510951.1:c.4986+24T>C	XP_011509253.1:n.4986+24T>C
XM_011510952.1:c.4986+24T>C	XP_011509254.1:n.4986+24T>C
XM_011510951.2:c.4986+24T>C	XP_011509253.1:n.4986+24T>C
NM_173076.3:c.4977+24T>C MANE Select	NP_775099.2:n.4977+24T>C
NR_103740.2:n.5475+24T>C
NM_015657.4:c.4023+24T>C	NP_056472.2:n.4023+24T>C