Canonical Allele Identifier: CA400556849

Gene: ACE

Linked Data

• dbSNP Id: rs1180603936
• gnomAD v3: 17-63487043-C-T
• gnomAD v4: 17-63487043-C-T
• COSMIC: COSM5755101 ; COSM5755102 ; COSM5755103 ; COSM5755104
• MyVariant Identifiers: chr17:g.61564404C>T (hg19) ; chr17:g.63487043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487043C>T , CM000679.2:g.63487043C>T	GRCh38
NC_000017.10:g.61564404C>T , CM000679.1:g.61564404C>T	GRCh37
NC_000017.9:g.58918136C>T	NCBI36
NG_011648.1:g.14971C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2275C>T MANE Select	ENSP00000290866.4:p.Pro759Ser
ENST00000290863.10:c.553C>T	ENSP00000290863.6:p.Pro185Ser
ENST00000290866.9:c.2275C>T	ENSP00000290866.4:p.Pro759Ser
ENST00000413513.7:c.553C>T	ENSP00000392247.3:p.Pro185Ser
ENST00000428043.5:c.2275C>T	ENSP00000397593.2:p.Pro759Ser
ENST00000577647.2:c.553C>T	ENSP00000464149.1:p.Pro185Ser
ENST00000578839.5:c.*345C>T	ENSP00000462110.2:n.*345C>T
ENST00000579204.1:c.456C>T	ENSP00000464629.1:n.456C>T
ENST00000579314.5:c.553C>T	ENSP00000462599.1:p.Pro185Ser
ENST00000579726.5:c.837C>T
ENST00000582005.5:c.*195C>T	ENSP00000462002.1:n.*195C>T
ENST00000582761.1:c.43C>T	ENSP00000462909.1:p.Pro15Ser
ENST00000584865.5:n.221C>T
NM_000789.3:c.2275C>T	NP_000780.1:p.Pro759Ser
NM_001178057.1:c.553C>T	NP_001171528.1:p.Pro185Ser
NM_152830.2:c.553C>T	NP_690043.1:p.Pro185Ser
XM_005257110.1:c.1726C>T	XP_005257167.1:p.Pro576Ser
XM_006721737.2:c.613C>T	XP_006721800.2:p.Pro205Ser
XM_006721737.3:c.613C>T	XP_006721800.2:p.Pro205Ser
NM_000789.4:c.2275C>T MANE Select	NP_000780.1:p.Pro759Ser
NM_001178057.2:c.553C>T	NP_001171528.1:p.Pro185Ser
NM_152830.3:c.553C>T	NP_690043.1:p.Pro185Ser
NM_001382700.1:c.1708C>T	NP_001369629.1:p.Pro570Ser
NM_001382701.1:c.1423C>T	NP_001369630.1:p.Pro475Ser
NM_001382702.1:c.205C>T	NP_001369631.1:p.Pro69Ser
NR_168483.1:n.575C>T