Canonical Allele Identifier: CA350461065

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214980584-T-C
• MyVariant Identifiers: chr2:g.215845308T>C (hg19) ; chr2:g.214980584T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980584T>C , CM000664.2:g.214980584T>C	GRCh38
NC_000002.11:g.215845308T>C , CM000664.1:g.215845308T>C	GRCh37
NC_000002.10:g.215553553T>C	NCBI36
NG_007074.1:g.162844A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4639A>G MANE Select	ENSP00000272895.7:p.Ile1547Val
ENST00000272895.11:c.4639A>G	ENSP00000272895.7:p.Ile1547Val
ENST00000389661.4:c.3685A>G	ENSP00000374312.4:p.Ile1229Val
NM_015657.3:c.3685A>G	NP_056472.2:p.Ile1229Val
NM_173076.2:c.4639A>G	NP_775099.2:p.Ile1547Val
NR_103740.1:n.4939A>G
XM_011510951.1:c.4648A>G	XP_011509253.1:p.Ile1550Val
XM_011510952.1:c.4648A>G	XP_011509254.1:p.Ile1550Val
XM_011510951.2:c.4648A>G	XP_011509253.1:p.Ile1550Val
NM_173076.3:c.4639A>G MANE Select	NP_775099.2:p.Ile1547Val
NR_103740.2:n.5137A>G
NM_015657.4:c.3685A>G	NP_056472.2:p.Ile1229Val