Canonical Allele Identifier: CA400548778

Gene: ACE

Linked Data

• dbSNP Id: rs1190121193
• gnomAD v3: 17-63482475-G-T
• gnomAD v4: 17-63482475-G-T
• MyVariant Identifiers: chr17:g.61559836G>T (hg19) ; chr17:g.63482475G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482475G>T , CM000679.2:g.63482475G>T	GRCh38
NC_000017.10:g.61559836G>T , CM000679.1:g.61559836G>T	GRCh37
NC_000017.9:g.58913568G>T	NCBI36
NG_011648.1:g.10403G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.1128G>T MANE Select	ENSP00000290866.4:p.Gln376His
ENST00000290866.9:c.1128G>T	ENSP00000290866.4:p.Gln376His
ENST00000428043.5:c.1128G>T	ENSP00000397593.2:p.Gln376His
ENST00000582678.5:c.*527G>T	ENSP00000462995.1:n.*527G>T
ENST00000584529.5:n.1162G>T
NM_000789.3:c.1128G>T	NP_000780.1:p.Gln376His
XM_005257110.1:c.579G>T	XP_005257167.1:p.Gln193His
NM_000789.4:c.1128G>T MANE Select	NP_000780.1:p.Gln376His
NM_001382700.1:c.561G>T	NP_001369629.1:p.Gln187His
NM_001382701.1:c.276G>T	NP_001369630.1:p.Gln92His