Canonical Allele Identifier: CA350461203

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214980617-G-A
• MyVariant Identifiers: chr2:g.215845341G>A (hg19) ; chr2:g.214980617G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980617G>A , CM000664.2:g.214980617G>A	GRCh38
NC_000002.11:g.215845341G>A , CM000664.1:g.215845341G>A	GRCh37
NC_000002.10:g.215553586G>A	NCBI36
NG_007074.1:g.162811C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4606C>T MANE Select	ENSP00000272895.7:p.His1536Tyr
ENST00000272895.11:c.4606C>T	ENSP00000272895.7:p.His1536Tyr
ENST00000389661.4:c.3652C>T	ENSP00000374312.4:p.His1218Tyr
NM_015657.3:c.3652C>T	NP_056472.2:p.His1218Tyr
NM_173076.2:c.4606C>T	NP_775099.2:p.His1536Tyr
NR_103740.1:n.4906C>T
XM_011510951.1:c.4615C>T	XP_011509253.1:p.His1539Tyr
XM_011510952.1:c.4615C>T	XP_011509254.1:p.His1539Tyr
XM_011510951.2:c.4615C>T	XP_011509253.1:p.His1539Tyr
NM_173076.3:c.4606C>T MANE Select	NP_775099.2:p.His1536Tyr
NR_103740.2:n.5104C>T
NM_015657.4:c.3652C>T	NP_056472.2:p.His1218Tyr