Canonical Allele Identifier: CA400556768

Gene: ACE

Linked Data

• gnomAD v4: 17-63487025-G-T
• MyVariant Identifiers: chr17:g.61564386G>T (hg19) ; chr17:g.63487025G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487025G>T , CM000679.2:g.63487025G>T	GRCh38
NC_000017.10:g.61564386G>T , CM000679.1:g.61564386G>T	GRCh37
NC_000017.9:g.58918118G>T	NCBI36
NG_011648.1:g.14953G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2257G>T MANE Select	ENSP00000290866.4:p.Val753Leu
ENST00000290863.10:c.535G>T	ENSP00000290863.6:p.Val179Leu
ENST00000290866.9:c.2257G>T	ENSP00000290866.4:p.Val753Leu
ENST00000413513.7:c.535G>T	ENSP00000392247.3:p.Val179Leu
ENST00000428043.5:c.2257G>T	ENSP00000397593.2:p.Val753Leu
ENST00000577647.2:c.535G>T	ENSP00000464149.1:p.Val179Leu
ENST00000578839.5:c.*327G>T	ENSP00000462110.2:n.*327G>T
ENST00000579204.1:c.438G>T	ENSP00000464629.1:n.438G>T
ENST00000579314.5:c.535G>T	ENSP00000462599.1:p.Val179Leu
ENST00000579726.5:c.819G>T
ENST00000582005.5:c.*177G>T	ENSP00000462002.1:n.*177G>T
ENST00000582761.1:c.25G>T	ENSP00000462909.1:p.Val9Leu
ENST00000584865.5:n.203G>T
NM_000789.3:c.2257G>T	NP_000780.1:p.Val753Leu
NM_001178057.1:c.535G>T	NP_001171528.1:p.Val179Leu
NM_152830.2:c.535G>T	NP_690043.1:p.Val179Leu
XM_005257110.1:c.1708G>T	XP_005257167.1:p.Val570Leu
XM_006721737.2:c.595G>T	XP_006721800.2:p.Val199Leu
XM_006721737.3:c.595G>T	XP_006721800.2:p.Val199Leu
NM_000789.4:c.2257G>T MANE Select	NP_000780.1:p.Val753Leu
NM_001178057.2:c.535G>T	NP_001171528.1:p.Val179Leu
NM_152830.3:c.535G>T	NP_690043.1:p.Val179Leu
NM_001382700.1:c.1690G>T	NP_001369629.1:p.Val564Leu
NM_001382701.1:c.1405G>T	NP_001369630.1:p.Val469Leu
NM_001382702.1:c.187G>T	NP_001369631.1:p.Val63Leu
NR_168483.1:n.557G>T