Canonical Allele Identifier: CA400568333

Gene: ACE

Linked Data

• gnomAD v4: 17-63497148-G-T
• MyVariant Identifiers: chr17:g.61574509G>T (hg19) ; chr17:g.63497148G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497148G>T , CM000679.2:g.63497148G>T	GRCh38
NC_000017.10:g.61574509G>T , CM000679.1:g.61574509G>T	GRCh37
NC_000017.9:g.58928241G>T	NCBI36
NG_011648.1:g.25076G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3703G>T MANE Select	ENSP00000290866.4:p.Gly1235Trp
ENST00000290863.10:c.1981G>T	ENSP00000290863.6:p.Gly661Trp
ENST00000290866.9:c.3703G>T	ENSP00000290866.4:p.Gly1235Trp
ENST00000413513.7:c.1858G>T	ENSP00000392247.3:p.Gly620Trp
ENST00000428043.5:c.*125G>T	ENSP00000397593.2:n.*125G>T
ENST00000577418.5:n.713G>T
ENST00000577647.2:c.1969+163G>T	ENSP00000464149.1:n.1969+163G>T
ENST00000578839.5:c.*1458G>T	ENSP00000462110.2:n.*1458G>T
ENST00000579314.5:c.*1432G>T	ENSP00000462599.1:n.*1432G>T
ENST00000579409.1:c.541G>T
NM_000789.3:c.3703G>T	NP_000780.1:p.Gly1235Trp
NM_001178057.1:c.1858G>T	NP_001171528.1:p.Gly620Trp
NM_152830.2:c.1981G>T	NP_690043.1:p.Gly661Trp
XM_005257110.1:c.3154G>T	XP_005257167.1:p.Gly1052Trp
XM_006721737.2:c.2041G>T	XP_006721800.2:p.Gly681Trp
XM_006721737.3:c.2041G>T	XP_006721800.2:p.Gly681Trp
NM_000789.4:c.3703G>T MANE Select	NP_000780.1:p.Gly1235Trp
NM_001178057.2:c.1858G>T	NP_001171528.1:p.Gly620Trp
NM_152830.3:c.1981G>T	NP_690043.1:p.Gly661Trp
NM_001382700.1:c.3136G>T	NP_001369629.1:p.Gly1046Trp
NM_001382701.1:c.2851G>T	NP_001369630.1:p.Gly951Trp
NM_001382702.1:c.1318G>T	NP_001369631.1:p.Gly440Trp
NR_168483.1:n.2081G>T