Canonical Allele Identifier: CA400566480

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574160A>T (hg19) ; chr17:g.63496799A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496799A>T , CM000679.2:g.63496799A>T	GRCh38
NC_000017.10:g.61574160A>T , CM000679.1:g.61574160A>T	GRCh37
NC_000017.9:g.58927892A>T	NCBI36
NG_011648.1:g.24727A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3505A>T MANE Select	ENSP00000290866.4:p.Thr1169Ser
ENST00000290863.10:c.1783A>T	ENSP00000290863.6:p.Thr595Ser
ENST00000290866.9:c.3505A>T	ENSP00000290866.4:p.Thr1169Ser
ENST00000413513.7:c.1660A>T	ENSP00000392247.3:p.Thr554Ser
ENST00000428043.5:c.3505A>T	ENSP00000397593.2:p.Thr1169Ser
ENST00000577418.5:n.515A>T
ENST00000577647.2:c.1783A>T	ENSP00000464149.1:p.Thr595Ser
ENST00000578839.5:c.*1260A>T	ENSP00000462110.2:n.*1260A>T
ENST00000579314.5:c.*1234A>T	ENSP00000462599.1:n.*1234A>T
ENST00000579409.1:c.192A>T
ENST00000582244.1:n.379A>T
NM_000789.3:c.3505A>T	NP_000780.1:p.Thr1169Ser
NM_001178057.1:c.1660A>T	NP_001171528.1:p.Thr554Ser
NM_152830.2:c.1783A>T	NP_690043.1:p.Thr595Ser
XM_005257110.1:c.2956A>T	XP_005257167.1:p.Thr986Ser
XM_006721737.2:c.1843A>T	XP_006721800.2:p.Thr615Ser
XM_006721737.3:c.1843A>T	XP_006721800.2:p.Thr615Ser
NM_000789.4:c.3505A>T MANE Select	NP_000780.1:p.Thr1169Ser
NM_001178057.2:c.1660A>T	NP_001171528.1:p.Thr554Ser
NM_152830.3:c.1783A>T	NP_690043.1:p.Thr595Ser
NM_001382700.1:c.2938A>T	NP_001369629.1:p.Thr980Ser
NM_001382701.1:c.2653A>T	NP_001369630.1:p.Thr885Ser
NM_001382702.1:c.1120A>T	NP_001369631.1:p.Thr374Ser
NR_168483.1:n.1883A>T