Canonical Allele Identifier: CA64813692

Gene: ABCA12

Linked Data

• dbSNP Id: rs566356723
• gnomAD v3: 2-214978910-C-G
• gnomAD v4: 2-214978910-C-G
• MyVariant Identifiers: chr2:g.215843634C>G (hg19) ; chr2:g.214978910C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978910C>G , CM000664.2:g.214978910C>G	GRCh38
NC_000002.11:g.215843634C>G , CM000664.1:g.215843634C>G	GRCh37
NC_000002.10:g.215551879C>G	NCBI36
NG_007074.1:g.164518G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4871G>C MANE Select	ENSP00000272895.7:p.Ser1624Thr
ENST00000272895.11:c.4871G>C	ENSP00000272895.7:p.Ser1624Thr
ENST00000389661.4:c.3917G>C	ENSP00000374312.4:p.Ser1306Thr
NM_015657.3:c.3917G>C	NP_056472.2:p.Ser1306Thr
NM_173076.2:c.4871G>C	NP_775099.2:p.Ser1624Thr
NR_103740.1:n.5171G>C
XM_011510951.1:c.4880G>C	XP_011509253.1:p.Ser1627Thr
XM_011510952.1:c.4880G>C	XP_011509254.1:p.Ser1627Thr
XM_011510951.2:c.4880G>C	XP_011509253.1:p.Ser1627Thr
NM_173076.3:c.4871G>C MANE Select	NP_775099.2:p.Ser1624Thr
NR_103740.2:n.5369G>C
NM_015657.4:c.3917G>C	NP_056472.2:p.Ser1306Thr