Canonical Allele Identifier: CA2269941598

Gene: ACE

Linked Data

• dbSNP Id: rs2049692200
• gnomAD v4: 17-63480674-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63480674G>C , CM000679.2:g.63480674G>C	GRCh38
NC_000017.10:g.61558035G>C , CM000679.1:g.61558035G>C	GRCh37
NC_000017.9:g.58911767G>C	NCBI36
NG_011648.1:g.8602G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.847+146G>C MANE Select	ENSP00000290866.4:n.847+146G>C
ENST00000290866.9:c.847+146G>C	ENSP00000290866.4:n.847+146G>C
ENST00000428043.5:c.847+146G>C	ENSP00000397593.2:n.847+146G>C
ENST00000582627.1:c.847+146G>C	ENSP00000462280.1:n.847+146G>C
ENST00000582678.5:c.*246+146G>C	ENSP00000462995.1:n.*246+146G>C
ENST00000584529.5:n.881+146G>C
NM_000789.3:c.847+146G>C	NP_000780.1:n.847+146G>C
XM_005257110.1:c.298+146G>C	XP_005257167.1:n.298+146G>C
NM_000789.4:c.847+146G>C MANE Select	NP_000780.1:n.847+146G>C
NM_001382700.1:c.374+146G>C	NP_001369629.1:n.374+146G>C
NM_001382701.1:c.-6+146G>C	NP_001369630.1:n.-6+146G>C