Canonical Allele Identifier: CA350447553

Gene: ABCA12

Linked Data

• dbSNP Id: rs1700580548
• gnomAD v4: 2-215019602-T-C
• MyVariant Identifiers: chr2:g.215884326T>C (hg19) ; chr2:g.215019602T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019602T>C , CM000664.2:g.215019602T>C	GRCh38
NC_000002.11:g.215884326T>C , CM000664.1:g.215884326T>C	GRCh37
NC_000002.10:g.215592571T>C	NCBI36
NG_007074.1:g.123826A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1482A>G MANE Select	ENSP00000272895.7:p.Ile494Met
ENST00000272895.11:c.1482A>G	ENSP00000272895.7:p.Ile494Met
ENST00000389661.4:c.528A>G	ENSP00000374312.4:p.Ile176Met
NM_015657.3:c.528A>G	NP_056472.2:p.Ile176Met
NM_173076.2:c.1482A>G	NP_775099.2:p.Ile494Met
NR_103740.1:n.1726A>G
XM_011510951.1:c.1482A>G	XP_011509253.1:p.Ile494Met
XM_011510952.1:c.1482A>G	XP_011509254.1:p.Ile494Met
XM_011510951.2:c.1482A>G	XP_011509253.1:p.Ile494Met
NM_173076.3:c.1482A>G MANE Select	NP_775099.2:p.Ile494Met
NR_103740.2:n.1924A>G
NM_015657.4:c.528A>G	NP_056472.2:p.Ile176Met