Canonical Allele Identifier: CA1042217315

Gene: ABCA12

Linked Data

• dbSNP Id: rs1699620176
• gnomAD v3: 2-214980419-C-A
• gnomAD v4: 2-214980419-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980419C>A , CM000664.2:g.214980419C>A	GRCh38
NC_000002.11:g.215845143C>A , CM000664.1:g.215845143C>A	GRCh37
NC_000002.10:g.215553388C>A	NCBI36
NG_007074.1:g.163009G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4740+64G>T MANE Select	ENSP00000272895.7:n.4740+64G>T
ENST00000272895.11:c.4740+64G>T	ENSP00000272895.7:n.4740+64G>T
ENST00000389661.4:c.3786+64G>T	ENSP00000374312.4:n.3786+64G>T
NM_015657.3:c.3786+64G>T	NP_056472.2:n.3786+64G>T
NM_173076.2:c.4740+64G>T	NP_775099.2:n.4740+64G>T
NR_103740.1:n.5040+64G>T
XM_011510951.1:c.4749+64G>T	XP_011509253.1:n.4749+64G>T
XM_011510952.1:c.4749+64G>T	XP_011509254.1:n.4749+64G>T
XM_011510951.2:c.4749+64G>T	XP_011509253.1:n.4749+64G>T
NM_173076.3:c.4740+64G>T MANE Select	NP_775099.2:n.4740+64G>T
NR_103740.2:n.5238+64G>T
NM_015657.4:c.3786+64G>T	NP_056472.2:n.3786+64G>T