Canonical Allele Identifier: CA539536608

Gene: ABCA12

Linked Data

• dbSNP Id: rs1489579404
• gnomAD v2: 2-215845163-T-C
• gnomAD v4: 2-214980439-T-C
• MyVariant Identifiers: chr2:g.215845163T>C (hg19) ; chr2:g.214980439T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980439T>C , CM000664.2:g.214980439T>C	GRCh38
NC_000002.11:g.215845163T>C , CM000664.1:g.215845163T>C	GRCh37
NC_000002.10:g.215553408T>C	NCBI36
NG_007074.1:g.162989A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4740+44A>G MANE Select	ENSP00000272895.7:n.4740+44A>G
ENST00000272895.11:c.4740+44A>G	ENSP00000272895.7:n.4740+44A>G
ENST00000389661.4:c.3786+44A>G	ENSP00000374312.4:n.3786+44A>G
NM_015657.3:c.3786+44A>G	NP_056472.2:n.3786+44A>G
NM_173076.2:c.4740+44A>G	NP_775099.2:n.4740+44A>G
NR_103740.1:n.5040+44A>G
XM_011510951.1:c.4749+44A>G	XP_011509253.1:n.4749+44A>G
XM_011510952.1:c.4749+44A>G	XP_011509254.1:n.4749+44A>G
XM_011510951.2:c.4749+44A>G	XP_011509253.1:n.4749+44A>G
NM_173076.3:c.4740+44A>G MANE Select	NP_775099.2:n.4740+44A>G
NR_103740.2:n.5238+44A>G
NM_015657.4:c.3786+44A>G	NP_056472.2:n.3786+44A>G