Canonical Allele Identifier: CA8700126

Gene: ACE

Linked Data

• dbSNP Id: rs758008802
• ExAC: 17:61566318 G / T
• gnomAD v2: 17-61566318-G-T
• gnomAD v4: 17-63488957-G-T
• MyVariant Identifiers: chr17:g.61566318G>T (hg19) ; chr17:g.63488957G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488957G>T , CM000679.2:g.63488957G>T	GRCh38
NC_000017.10:g.61566318G>T , CM000679.1:g.61566318G>T	GRCh37
NC_000017.9:g.58920050G>T	NCBI36
NG_011648.1:g.16885G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2466G>T MANE Select	ENSP00000290866.4:p.Gly822=
ENST00000290863.10:c.744G>T	ENSP00000290863.6:p.Gly248=
ENST00000290866.9:c.2466G>T	ENSP00000290866.4:p.Gly822=
ENST00000413513.7:c.744G>T	ENSP00000392247.3:p.Gly248=
ENST00000428043.5:c.2466G>T	ENSP00000397593.2:p.Gly822=
ENST00000577647.2:c.744G>T	ENSP00000464149.1:p.Gly248=
ENST00000578839.5:c.*519+166G>T	ENSP00000462110.2:n.*519+166G>T
ENST00000579204.1:c.725G>T	ENSP00000464629.1:n.725G>T
ENST00000579314.5:c.*195G>T	ENSP00000462599.1:n.*195G>T
ENST00000582005.5:c.*386G>T	ENSP00000462002.1:n.*386G>T
ENST00000582761.1:c.234G>T	ENSP00000462909.1:p.Gly78=
ENST00000584865.5:n.412G>T
NM_000789.3:c.2466G>T	NP_000780.1:p.Gly822=
NM_001178057.1:c.744G>T	NP_001171528.1:p.Gly248=
NM_152830.2:c.744G>T	NP_690043.1:p.Gly248=
XM_005257110.1:c.1917G>T	XP_005257167.1:p.Gly639=
XM_006721737.2:c.804G>T	XP_006721800.2:p.Gly268=
XM_006721737.3:c.804G>T	XP_006721800.2:p.Gly268=
NM_000789.4:c.2466G>T MANE Select	NP_000780.1:p.Gly822=
NM_001178057.2:c.744G>T	NP_001171528.1:p.Gly248=
NM_152830.3:c.744G>T	NP_690043.1:p.Gly248=
NM_001382700.1:c.1899G>T	NP_001369629.1:p.Gly633=
NM_001382701.1:c.1614G>T	NP_001369630.1:p.Gly538=
NM_001382702.1:c.379+166G>T	NP_001369631.1:n.379+166G>T
NR_168483.1:n.844G>T