Canonical Allele Identifier: CA400555921

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61563980T>G (hg19) ; chr17:g.63486619T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486619T>G , CM000679.2:g.63486619T>G	GRCh38
NC_000017.10:g.61563980T>G , CM000679.1:g.61563980T>G	GRCh37
NC_000017.9:g.58917712T>G	NCBI36
NG_011648.1:g.14547T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2121T>G MANE Select	ENSP00000290866.4:p.Phe707Leu
ENST00000290863.10:c.399T>G	ENSP00000290863.6:p.Phe133Leu
ENST00000290866.9:c.2121T>G	ENSP00000290866.4:p.Phe707Leu
ENST00000413513.7:c.399T>G	ENSP00000392247.3:p.Phe133Leu
ENST00000428043.5:c.2121T>G	ENSP00000397593.2:p.Phe707Leu
ENST00000577647.2:c.399T>G	ENSP00000464149.1:p.Phe133Leu
ENST00000578839.5:c.*191T>G	ENSP00000462110.2:n.*191T>G
ENST00000579204.1:c.302T>G	ENSP00000464629.1:n.302T>G
ENST00000579314.5:c.399T>G	ENSP00000462599.1:p.Phe133Leu
ENST00000579726.5:c.683T>G
ENST00000582005.5:c.*41T>G	ENSP00000462002.1:n.*41T>G
NM_000789.3:c.2121T>G	NP_000780.1:p.Phe707Leu
NM_001178057.1:c.399T>G	NP_001171528.1:p.Phe133Leu
NM_152830.2:c.399T>G	NP_690043.1:p.Phe133Leu
XM_005257110.1:c.1572T>G	XP_005257167.1:p.Phe524Leu
XM_006721737.2:c.459T>G	XP_006721800.2:p.Phe153Leu
XM_006721737.3:c.459T>G	XP_006721800.2:p.Phe153Leu
NM_000789.4:c.2121T>G MANE Select	NP_000780.1:p.Phe707Leu
NM_001178057.2:c.399T>G	NP_001171528.1:p.Phe133Leu
NM_152830.3:c.399T>G	NP_690043.1:p.Phe133Leu
NM_001382700.1:c.1554T>G	NP_001369629.1:p.Phe518Leu
NM_001382701.1:c.1269T>G	NP_001369630.1:p.Phe423Leu
NM_001382702.1:c.51T>G	NP_001369631.1:p.Phe17Leu
NR_168483.1:n.421T>G