Canonical Allele Identifier: CA400567078

Gene: ACE

Linked Data

• dbSNP Id: rs1343107612
• gnomAD v2: 17-61574238-T-C
• gnomAD v4: 17-63496877-T-C
• MyVariant Identifiers: chr17:g.61574238T>C (hg19) ; chr17:g.63496877T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496877T>C , CM000679.2:g.63496877T>C	GRCh38
NC_000017.10:g.61574238T>C , CM000679.1:g.61574238T>C	GRCh37
NC_000017.9:g.58927970T>C	NCBI36
NG_011648.1:g.24805T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.3583T>C MANE Select	ENSP00000290866.4:p.Ser1195Pro
ENST00000290863.10:c.1861T>C	ENSP00000290863.6:p.Ser621Pro
ENST00000290866.9:c.3583T>C	ENSP00000290866.4:p.Ser1195Pro
ENST00000413513.7:c.1738T>C	ENSP00000392247.3:p.Ser580Pro
ENST00000428043.5:c.3583T>C	ENSP00000397593.2:p.Ser1195Pro
ENST00000577418.5:n.593T>C
ENST00000577647.2:c.1861T>C	ENSP00000464149.1:p.Ser621Pro
ENST00000578839.5:c.*1338T>C	ENSP00000462110.2:n.*1338T>C
ENST00000579314.5:c.*1312T>C	ENSP00000462599.1:n.*1312T>C
ENST00000579409.1:c.270T>C
ENST00000582244.1:n.457T>C
NM_000789.3:c.3583T>C	NP_000780.1:p.Ser1195Pro
NM_001178057.1:c.1738T>C	NP_001171528.1:p.Ser580Pro
NM_152830.2:c.1861T>C	NP_690043.1:p.Ser621Pro
XM_005257110.1:c.3034T>C	XP_005257167.1:p.Ser1012Pro
XM_006721737.2:c.1921T>C	XP_006721800.2:p.Ser641Pro
XM_006721737.3:c.1921T>C	XP_006721800.2:p.Ser641Pro
NM_000789.4:c.3583T>C MANE Select	NP_000780.1:p.Ser1195Pro
NM_001178057.2:c.1738T>C	NP_001171528.1:p.Ser580Pro
NM_152830.3:c.1861T>C	NP_690043.1:p.Ser621Pro
NM_001382700.1:c.3016T>C	NP_001369629.1:p.Ser1006Pro
NM_001382701.1:c.2731T>C	NP_001369630.1:p.Ser911Pro
NM_001382702.1:c.1198T>C	NP_001369631.1:p.Ser400Pro
NR_168483.1:n.1961T>C