Canonical Allele Identifier: CA400556780

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564389G>A (hg19) ; chr17:g.63487028G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487028G>A , CM000679.2:g.63487028G>A	GRCh38
NC_000017.10:g.61564389G>A , CM000679.1:g.61564389G>A	GRCh37
NC_000017.9:g.58918121G>A	NCBI36
NG_011648.1:g.14956G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2260G>A MANE Select	ENSP00000290866.4:p.Ala754Thr
ENST00000290863.10:c.538G>A	ENSP00000290863.6:p.Ala180Thr
ENST00000290866.9:c.2260G>A	ENSP00000290866.4:p.Ala754Thr
ENST00000413513.7:c.538G>A	ENSP00000392247.3:p.Ala180Thr
ENST00000428043.5:c.2260G>A	ENSP00000397593.2:p.Ala754Thr
ENST00000577647.2:c.538G>A	ENSP00000464149.1:p.Ala180Thr
ENST00000578839.5:c.*330G>A	ENSP00000462110.2:n.*330G>A
ENST00000579204.1:c.441G>A	ENSP00000464629.1:n.441G>A
ENST00000579314.5:c.538G>A	ENSP00000462599.1:p.Ala180Thr
ENST00000579726.5:c.822G>A
ENST00000582005.5:c.*180G>A	ENSP00000462002.1:n.*180G>A
ENST00000582761.1:c.28G>A	ENSP00000462909.1:p.Ala10Thr
ENST00000584865.5:n.206G>A
NM_000789.3:c.2260G>A	NP_000780.1:p.Ala754Thr
NM_001178057.1:c.538G>A	NP_001171528.1:p.Ala180Thr
NM_152830.2:c.538G>A	NP_690043.1:p.Ala180Thr
XM_005257110.1:c.1711G>A	XP_005257167.1:p.Ala571Thr
XM_006721737.2:c.598G>A	XP_006721800.2:p.Ala200Thr
XM_006721737.3:c.598G>A	XP_006721800.2:p.Ala200Thr
NM_000789.4:c.2260G>A MANE Select	NP_000780.1:p.Ala754Thr
NM_001178057.2:c.538G>A	NP_001171528.1:p.Ala180Thr
NM_152830.3:c.538G>A	NP_690043.1:p.Ala180Thr
NM_001382700.1:c.1693G>A	NP_001369629.1:p.Ala565Thr
NM_001382701.1:c.1408G>A	NP_001369630.1:p.Ala470Thr
NM_001382702.1:c.190G>A	NP_001369631.1:p.Ala64Thr
NR_168483.1:n.560G>A