Canonical Allele Identifier: CA350447350

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215019545-C-T
• MyVariant Identifiers: chr2:g.215884269C>T (hg19) ; chr2:g.215019545C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019545C>T , CM000664.2:g.215019545C>T	GRCh38
NC_000002.11:g.215884269C>T , CM000664.1:g.215884269C>T	GRCh37
NC_000002.10:g.215592514C>T	NCBI36
NG_007074.1:g.123883G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1539G>A MANE Select	ENSP00000272895.7:p.Met513Ile
ENST00000272895.11:c.1539G>A	ENSP00000272895.7:p.Met513Ile
ENST00000389661.4:c.585G>A	ENSP00000374312.4:p.Met195Ile
NM_015657.3:c.585G>A	NP_056472.2:p.Met195Ile
NM_173076.2:c.1539G>A	NP_775099.2:p.Met513Ile
NR_103740.1:n.1783G>A
XM_011510951.1:c.1539G>A	XP_011509253.1:p.Met513Ile
XM_011510952.1:c.1539G>A	XP_011509254.1:p.Met513Ile
XM_011510951.2:c.1539G>A	XP_011509253.1:p.Met513Ile
NM_173076.3:c.1539G>A MANE Select	NP_775099.2:p.Met513Ile
NR_103740.2:n.1981G>A
NM_015657.4:c.585G>A	NP_056472.2:p.Met195Ile