Canonical Allele Identifier: CA400566494

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574161C>G (hg19) ; chr17:g.63496800C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496800C>G , CM000679.2:g.63496800C>G	GRCh38
NC_000017.10:g.61574161C>G , CM000679.1:g.61574161C>G	GRCh37
NC_000017.9:g.58927893C>G	NCBI36
NG_011648.1:g.24728C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3506C>G MANE Select	ENSP00000290866.4:p.Thr1169Ser
ENST00000290863.10:c.1784C>G	ENSP00000290863.6:p.Thr595Ser
ENST00000290866.9:c.3506C>G	ENSP00000290866.4:p.Thr1169Ser
ENST00000413513.7:c.1661C>G	ENSP00000392247.3:p.Thr554Ser
ENST00000428043.5:c.3506C>G	ENSP00000397593.2:p.Thr1169Ser
ENST00000577418.5:n.516C>G
ENST00000577647.2:c.1784C>G	ENSP00000464149.1:p.Thr595Ser
ENST00000578839.5:c.*1261C>G	ENSP00000462110.2:n.*1261C>G
ENST00000579314.5:c.*1235C>G	ENSP00000462599.1:n.*1235C>G
ENST00000579409.1:c.193C>G
ENST00000582244.1:n.380C>G
NM_000789.3:c.3506C>G	NP_000780.1:p.Thr1169Ser
NM_001178057.1:c.1661C>G	NP_001171528.1:p.Thr554Ser
NM_152830.2:c.1784C>G	NP_690043.1:p.Thr595Ser
XM_005257110.1:c.2957C>G	XP_005257167.1:p.Thr986Ser
XM_006721737.2:c.1844C>G	XP_006721800.2:p.Thr615Ser
XM_006721737.3:c.1844C>G	XP_006721800.2:p.Thr615Ser
NM_000789.4:c.3506C>G MANE Select	NP_000780.1:p.Thr1169Ser
NM_001178057.2:c.1661C>G	NP_001171528.1:p.Thr554Ser
NM_152830.3:c.1784C>G	NP_690043.1:p.Thr595Ser
NM_001382700.1:c.2939C>G	NP_001369629.1:p.Thr980Ser
NM_001382701.1:c.2654C>G	NP_001369630.1:p.Thr885Ser
NM_001382702.1:c.1121C>G	NP_001369631.1:p.Thr374Ser
NR_168483.1:n.1884C>G