Canonical Allele Identifier: CA350483446

Gene: ABCA12

Linked Data

• dbSNP Id: rs761761379
• gnomAD v3: 2-215011469-C-A
• gnomAD v4: 2-215011469-C-A
• MyVariant Identifiers: chr2:g.215876193C>A (hg19) ; chr2:g.215011469C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011469C>A , CM000664.2:g.215011469C>A	GRCh38
NC_000002.11:g.215876193C>A , CM000664.1:g.215876193C>A	GRCh37
NC_000002.10:g.215584438C>A	NCBI36
NG_007074.1:g.131959G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2302G>T MANE Select	ENSP00000272895.7:p.Ala768Ser
ENST00000272895.11:c.2302G>T	ENSP00000272895.7:p.Ala768Ser
ENST00000389661.4:c.1348G>T	ENSP00000374312.4:p.Ala450Ser
NM_015657.3:c.1348G>T	NP_056472.2:p.Ala450Ser
NM_173076.2:c.2302G>T	NP_775099.2:p.Ala768Ser
NR_103740.1:n.2546G>T
XM_011510951.1:c.2302G>T	XP_011509253.1:p.Ala768Ser
XM_011510952.1:c.2302G>T	XP_011509254.1:p.Ala768Ser
XM_011510951.2:c.2302G>T	XP_011509253.1:p.Ala768Ser
NM_173076.3:c.2302G>T MANE Select	NP_775099.2:p.Ala768Ser
NR_103740.2:n.2744G>T
NM_015657.4:c.1348G>T	NP_056472.2:p.Ala450Ser