Canonical Allele Identifier: CA400556973

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564431C>A (hg19) ; chr17:g.63487070C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487070C>A , CM000679.2:g.63487070C>A	GRCh38
NC_000017.10:g.61564431C>A , CM000679.1:g.61564431C>A	GRCh37
NC_000017.9:g.58918163C>A	NCBI36
NG_011648.1:g.14998C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2302C>A MANE Select	ENSP00000290866.4:p.Pro768Thr
ENST00000290863.10:c.580C>A	ENSP00000290863.6:p.Pro194Thr
ENST00000290866.9:c.2302C>A	ENSP00000290866.4:p.Pro768Thr
ENST00000413513.7:c.580C>A	ENSP00000392247.3:p.Pro194Thr
ENST00000428043.5:c.2302C>A	ENSP00000397593.2:p.Pro768Thr
ENST00000577647.2:c.580C>A	ENSP00000464149.1:p.Pro194Thr
ENST00000578839.5:c.*372C>A	ENSP00000462110.2:n.*372C>A
ENST00000579204.1:c.483C>A	ENSP00000464629.1:n.483C>A
ENST00000579314.5:c.580C>A	ENSP00000462599.1:p.Pro194Thr
ENST00000579726.5:c.864C>A
ENST00000582005.5:c.*222C>A	ENSP00000462002.1:n.*222C>A
ENST00000582761.1:c.70C>A	ENSP00000462909.1:p.Pro24Thr
ENST00000584865.5:n.248C>A
NM_000789.3:c.2302C>A	NP_000780.1:p.Pro768Thr
NM_001178057.1:c.580C>A	NP_001171528.1:p.Pro194Thr
NM_152830.2:c.580C>A	NP_690043.1:p.Pro194Thr
XM_005257110.1:c.1753C>A	XP_005257167.1:p.Pro585Thr
XM_006721737.2:c.640C>A	XP_006721800.2:p.Pro214Thr
XM_006721737.3:c.640C>A	XP_006721800.2:p.Pro214Thr
NM_000789.4:c.2302C>A MANE Select	NP_000780.1:p.Pro768Thr
NM_001178057.2:c.580C>A	NP_001171528.1:p.Pro194Thr
NM_152830.3:c.580C>A	NP_690043.1:p.Pro194Thr
NM_001382700.1:c.1735C>A	NP_001369629.1:p.Pro579Thr
NM_001382701.1:c.1450C>A	NP_001369630.1:p.Pro484Thr
NM_001382702.1:c.232C>A	NP_001369631.1:p.Pro78Thr
NR_168483.1:n.602C>A