Canonical Allele Identifier: CA2091368

Gene: ABCA12

Linked Data

• dbSNP Id: rs769256338
• ExAC: 2:215843671 T / C
• MyVariant Identifiers: chr2:g.215843671T>C (hg19) ; chr2:g.214978947T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978947T>C , CM000664.2:g.214978947T>C	GRCh38
NC_000002.11:g.215843671T>C , CM000664.1:g.215843671T>C	GRCh37
NC_000002.10:g.215551916T>C	NCBI36
NG_007074.1:g.164481A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4834A>G MANE Select	ENSP00000272895.7:p.Ile1612Val
ENST00000272895.11:c.4834A>G	ENSP00000272895.7:p.Ile1612Val
ENST00000389661.4:c.3880A>G	ENSP00000374312.4:p.Ile1294Val
NM_015657.3:c.3880A>G	NP_056472.2:p.Ile1294Val
NM_173076.2:c.4834A>G	NP_775099.2:p.Ile1612Val
NR_103740.1:n.5134A>G
XM_011510951.1:c.4843A>G	XP_011509253.1:p.Ile1615Val
XM_011510952.1:c.4843A>G	XP_011509254.1:p.Ile1615Val
XM_011510951.2:c.4843A>G	XP_011509253.1:p.Ile1615Val
NM_173076.3:c.4834A>G MANE Select	NP_775099.2:p.Ile1612Val
NR_103740.2:n.5332A>G
NM_015657.4:c.3880A>G	NP_056472.2:p.Ile1294Val