Canonical Allele Identifier: CA350447372

Gene: ABCA12

Linked Data

• dbSNP Id: rs1700578798
• gnomAD v4: 2-215019550-T-G
• MyVariant Identifiers: chr2:g.215884274T>G (hg19) ; chr2:g.215019550T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019550T>G , CM000664.2:g.215019550T>G	GRCh38
NC_000002.11:g.215884274T>G , CM000664.1:g.215884274T>G	GRCh37
NC_000002.10:g.215592519T>G	NCBI36
NG_007074.1:g.123878A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1534A>C MANE Select	ENSP00000272895.7:p.Asn512His
ENST00000272895.11:c.1534A>C	ENSP00000272895.7:p.Asn512His
ENST00000389661.4:c.580A>C	ENSP00000374312.4:p.Asn194His
NM_015657.3:c.580A>C	NP_056472.2:p.Asn194His
NM_173076.2:c.1534A>C	NP_775099.2:p.Asn512His
NR_103740.1:n.1778A>C
XM_011510951.1:c.1534A>C	XP_011509253.1:p.Asn512His
XM_011510952.1:c.1534A>C	XP_011509254.1:p.Asn512His
XM_011510951.2:c.1534A>C	XP_011509253.1:p.Asn512His
NM_173076.3:c.1534A>C MANE Select	NP_775099.2:p.Asn512His
NR_103740.2:n.1976A>C
NM_015657.4:c.580A>C	NP_056472.2:p.Asn194His