Canonical Allele Identifier: CA539837556

Gene: ABCA12

Linked Data

• dbSNP Id: rs1379372167
• gnomAD v2: 2-215843504-A-C
• gnomAD v4: 2-214978780-A-C
• MyVariant Identifiers: chr2:g.215843504A>C (hg19) ; chr2:g.214978780A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978780A>C , CM000664.2:g.214978780A>C	GRCh38
NC_000002.11:g.215843504A>C , CM000664.1:g.215843504A>C	GRCh37
NC_000002.10:g.215551749A>C	NCBI36
NG_007074.1:g.164648T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4977+24T>G MANE Select	ENSP00000272895.7:n.4977+24T>G
ENST00000272895.11:c.4977+24T>G	ENSP00000272895.7:n.4977+24T>G
ENST00000389661.4:c.4023+24T>G	ENSP00000374312.4:n.4023+24T>G
NM_015657.3:c.4023+24T>G	NP_056472.2:n.4023+24T>G
NM_173076.2:c.4977+24T>G	NP_775099.2:n.4977+24T>G
NR_103740.1:n.5277+24T>G
XM_011510951.1:c.4986+24T>G	XP_011509253.1:n.4986+24T>G
XM_011510952.1:c.4986+24T>G	XP_011509254.1:n.4986+24T>G
XM_011510951.2:c.4986+24T>G	XP_011509253.1:n.4986+24T>G
NM_173076.3:c.4977+24T>G MANE Select	NP_775099.2:n.4977+24T>G
NR_103740.2:n.5475+24T>G
NM_015657.4:c.4023+24T>G	NP_056472.2:n.4023+24T>G