Canonical Allele Identifier: CA64814704

Gene: ABCA12

Linked Data

• dbSNP Id: rs1045765678
• gnomAD v3: 2-214980413-A-C
• gnomAD v4: 2-214980413-A-C
• MyVariant Identifiers: chr2:g.215845137A>C (hg19) ; chr2:g.214980413A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980413A>C , CM000664.2:g.214980413A>C	GRCh38
NC_000002.11:g.215845137A>C , CM000664.1:g.215845137A>C	GRCh37
NC_000002.10:g.215553382A>C	NCBI36
NG_007074.1:g.163015T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4740+70T>G MANE Select	ENSP00000272895.7:n.4740+70T>G
ENST00000272895.11:c.4740+70T>G	ENSP00000272895.7:n.4740+70T>G
ENST00000389661.4:c.3786+70T>G	ENSP00000374312.4:n.3786+70T>G
NM_015657.3:c.3786+70T>G	NP_056472.2:n.3786+70T>G
NM_173076.2:c.4740+70T>G	NP_775099.2:n.4740+70T>G
NR_103740.1:n.5040+70T>G
XM_011510951.1:c.4749+70T>G	XP_011509253.1:n.4749+70T>G
XM_011510952.1:c.4749+70T>G	XP_011509254.1:n.4749+70T>G
XM_011510951.2:c.4749+70T>G	XP_011509253.1:n.4749+70T>G
NM_173076.3:c.4740+70T>G MANE Select	NP_775099.2:n.4740+70T>G
NR_103740.2:n.5238+70T>G
NM_015657.4:c.3786+70T>G	NP_056472.2:n.3786+70T>G