Canonical Allele Identifier: CA350460825

Gene: ABCA12

Linked Data

• dbSNP Id: rs1353315831
• gnomAD v2: 2-215845252-C-A
• gnomAD v4: 2-214980528-C-A
• MyVariant Identifiers: chr2:g.215845252C>A (hg19) ; chr2:g.214980528C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980528C>A , CM000664.2:g.214980528C>A	GRCh38
NC_000002.11:g.215845252C>A , CM000664.1:g.215845252C>A	GRCh37
NC_000002.10:g.215553497C>A	NCBI36
NG_007074.1:g.162900G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4695G>T MANE Select	ENSP00000272895.7:p.Lys1565Asn
ENST00000272895.11:c.4695G>T	ENSP00000272895.7:p.Lys1565Asn
ENST00000389661.4:c.3741G>T	ENSP00000374312.4:p.Lys1247Asn
NM_015657.3:c.3741G>T	NP_056472.2:p.Lys1247Asn
NM_173076.2:c.4695G>T	NP_775099.2:p.Lys1565Asn
NR_103740.1:n.4995G>T
XM_011510951.1:c.4704G>T	XP_011509253.1:p.Lys1568Asn
XM_011510952.1:c.4704G>T	XP_011509254.1:p.Lys1568Asn
XM_011510951.2:c.4704G>T	XP_011509253.1:p.Lys1568Asn
NM_173076.3:c.4695G>T MANE Select	NP_775099.2:p.Lys1565Asn
NR_103740.2:n.5193G>T
NM_015657.4:c.3741G>T	NP_056472.2:p.Lys1247Asn