Canonical Allele Identifier: CA400556671

Gene: ACE

Linked Data

• dbSNP Id: rs2029994732
• gnomAD v4: 17-63487008-T-C
• MyVariant Identifiers: chr17:g.61564369T>C (hg19) ; chr17:g.63487008T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487008T>C , CM000679.2:g.63487008T>C	GRCh38
NC_000017.10:g.61564369T>C , CM000679.1:g.61564369T>C	GRCh37
NC_000017.9:g.58918101T>C	NCBI36
NG_011648.1:g.14936T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2240T>C MANE Select	ENSP00000290866.4:p.Met747Thr
ENST00000290863.10:c.518T>C	ENSP00000290863.6:p.Met173Thr
ENST00000290866.9:c.2240T>C	ENSP00000290866.4:p.Met747Thr
ENST00000413513.7:c.518T>C	ENSP00000392247.3:p.Met173Thr
ENST00000428043.5:c.2240T>C	ENSP00000397593.2:p.Met747Thr
ENST00000577647.2:c.518T>C	ENSP00000464149.1:p.Met173Thr
ENST00000578839.5:c.*310T>C	ENSP00000462110.2:n.*310T>C
ENST00000579204.1:c.421T>C	ENSP00000464629.1:n.421T>C
ENST00000579314.5:c.518T>C	ENSP00000462599.1:p.Met173Thr
ENST00000579726.5:c.802T>C
ENST00000582005.5:c.*160T>C	ENSP00000462002.1:n.*160T>C
ENST00000582761.1:c.8T>C	ENSP00000462909.1:p.Met3Thr
ENST00000584865.5:n.186T>C
NM_000789.3:c.2240T>C	NP_000780.1:p.Met747Thr
NM_001178057.1:c.518T>C	NP_001171528.1:p.Met173Thr
NM_152830.2:c.518T>C	NP_690043.1:p.Met173Thr
XM_005257110.1:c.1691T>C	XP_005257167.1:p.Met564Thr
XM_006721737.2:c.578T>C	XP_006721800.2:p.Met193Thr
XM_006721737.3:c.578T>C	XP_006721800.2:p.Met193Thr
NM_000789.4:c.2240T>C MANE Select	NP_000780.1:p.Met747Thr
NM_001178057.2:c.518T>C	NP_001171528.1:p.Met173Thr
NM_152830.3:c.518T>C	NP_690043.1:p.Met173Thr
NM_001382700.1:c.1673T>C	NP_001369629.1:p.Met558Thr
NM_001382701.1:c.1388T>C	NP_001369630.1:p.Met463Thr
NM_001382702.1:c.170T>C	NP_001369631.1:p.Met57Thr
NR_168483.1:n.540T>C