Canonical Allele Identifier: CA400567841

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574334A>T (hg19) ; chr17:g.63496973A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496973A>T , CM000679.2:g.63496973A>T	GRCh38
NC_000017.10:g.61574334A>T , CM000679.1:g.61574334A>T	GRCh37
NC_000017.9:g.58928066A>T	NCBI36
NG_011648.1:g.24901A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3679A>T MANE Select	ENSP00000290866.4:p.Thr1227Ser
ENST00000290863.10:c.1957A>T	ENSP00000290863.6:p.Thr653Ser
ENST00000290866.9:c.3679A>T	ENSP00000290866.4:p.Thr1227Ser
ENST00000413513.7:c.1834A>T	ENSP00000392247.3:p.Thr612Ser
ENST00000428043.5:c.3679A>T	ENSP00000397593.2:p.Thr1227Ser
ENST00000577418.5:n.689A>T
ENST00000577647.2:c.1957A>T	ENSP00000464149.1:p.Thr653Ser
ENST00000578839.5:c.*1434A>T	ENSP00000462110.2:n.*1434A>T
ENST00000579314.5:c.*1408A>T	ENSP00000462599.1:n.*1408A>T
ENST00000579409.1:c.366A>T
ENST00000582244.1:n.553A>T
NM_000789.3:c.3679A>T	NP_000780.1:p.Thr1227Ser
NM_001178057.1:c.1834A>T	NP_001171528.1:p.Thr612Ser
NM_152830.2:c.1957A>T	NP_690043.1:p.Thr653Ser
XM_005257110.1:c.3130A>T	XP_005257167.1:p.Thr1044Ser
XM_006721737.2:c.2017A>T	XP_006721800.2:p.Thr673Ser
XM_006721737.3:c.2017A>T	XP_006721800.2:p.Thr673Ser
NM_000789.4:c.3679A>T MANE Select	NP_000780.1:p.Thr1227Ser
NM_001178057.2:c.1834A>T	NP_001171528.1:p.Thr612Ser
NM_152830.3:c.1957A>T	NP_690043.1:p.Thr653Ser
NM_001382700.1:c.3112A>T	NP_001369629.1:p.Thr1038Ser
NM_001382701.1:c.2827A>T	NP_001369630.1:p.Thr943Ser
NM_001382702.1:c.1294A>T	NP_001369631.1:p.Thr432Ser
NR_168483.1:n.2057A>T