Canonical Allele Identifier: CA400558003

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566110C>T (hg19) ; chr17:g.63488749C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488749C>T , CM000679.2:g.63488749C>T	GRCh38
NC_000017.10:g.61566110C>T , CM000679.1:g.61566110C>T	GRCh37
NC_000017.9:g.58919842C>T	NCBI36
NG_011648.1:g.16677C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2407C>T MANE Select	ENSP00000290866.4:p.Pro803Ser
ENST00000290863.10:c.685C>T	ENSP00000290863.6:p.Pro229Ser
ENST00000290866.9:c.2407C>T	ENSP00000290866.4:p.Pro803Ser
ENST00000413513.7:c.685C>T	ENSP00000392247.3:p.Pro229Ser
ENST00000428043.5:c.2407C>T	ENSP00000397593.2:p.Pro803Ser
ENST00000577647.2:c.685C>T	ENSP00000464149.1:p.Pro229Ser
ENST00000578839.5:c.*477C>T	ENSP00000462110.2:n.*477C>T
ENST00000579204.1:c.666C>T	ENSP00000464629.1:n.666C>T
ENST00000579314.5:c.*136C>T	ENSP00000462599.1:n.*136C>T
ENST00000582005.5:c.*327C>T	ENSP00000462002.1:n.*327C>T
ENST00000582761.1:c.175C>T	ENSP00000462909.1:p.Pro59Ser
ENST00000584865.5:n.353C>T
NM_000789.3:c.2407C>T	NP_000780.1:p.Pro803Ser
NM_001178057.1:c.685C>T	NP_001171528.1:p.Pro229Ser
NM_152830.2:c.685C>T	NP_690043.1:p.Pro229Ser
XM_005257110.1:c.1858C>T	XP_005257167.1:p.Pro620Ser
XM_006721737.2:c.745C>T	XP_006721800.2:p.Pro249Ser
XM_006721737.3:c.745C>T	XP_006721800.2:p.Pro249Ser
NM_000789.4:c.2407C>T MANE Select	NP_000780.1:p.Pro803Ser
NM_001178057.2:c.685C>T	NP_001171528.1:p.Pro229Ser
NM_152830.3:c.685C>T	NP_690043.1:p.Pro229Ser
NM_001382700.1:c.1840C>T	NP_001369629.1:p.Pro614Ser
NM_001382701.1:c.1555C>T	NP_001369630.1:p.Pro519Ser
NM_001382702.1:c.337C>T	NP_001369631.1:p.Pro113Ser
NR_168483.1:n.785C>T