Canonical Allele Identifier: CA350446057

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1178726110
• MyVariant Identifiers: chr2:g.215818625A>C (hg19) ; chr2:g.214953901A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953901A>C , CM000664.2:g.214953901A>C	GRCh38
NC_000002.11:g.215818625A>C , CM000664.1:g.215818625A>C	GRCh37
NC_000002.10:g.215526870A>C	NCBI36
NG_007074.1:g.189527T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.6600T>G (ABCA12) MANE Select	ENSP00000272895.7:p.Phe2200Leu
ENST00000272895.11:c.6600T>G (ABCA12)	ENSP00000272895.7:p.Phe2200Leu
ENST00000389661.4:c.5646T>G (ABCA12)	ENSP00000374312.4:p.Phe1882Leu
NM_015657.3:c.5646T>G (ABCA12)	NP_056472.2:p.Phe1882Leu
NM_173076.2:c.6600T>G (ABCA12)	NP_775099.2:p.Phe2200Leu
NR_103740.1:n.6900T>G (ABCA12)
NR_110292.1:n.444+5954A>C (SNHG31)
XM_011510951.1:c.6609T>G (ABCA12)	XP_011509253.1:p.Phe2203Leu
XM_011510951.2:c.6609T>G (ABCA12)	XP_011509253.1:p.Phe2203Leu
NM_173076.3:c.6600T>G (ABCA12) MANE Select	NP_775099.2:p.Phe2200Leu
NR_103740.2:n.7098T>G (ABCA12)
NM_015657.4:c.5646T>G (ABCA12)	NP_056472.2:p.Phe1882Leu