Canonical Allele Identifier: CA400558489

Gene: ACE

Linked Data

• dbSNP Id: rs2030193846
• gnomAD v4: 17-63489037-A-T
• MyVariant Identifiers: chr17:g.61566398A>T (hg19) ; chr17:g.63489037A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489037A>T , CM000679.2:g.63489037A>T	GRCh38
NC_000017.10:g.61566398A>T , CM000679.1:g.61566398A>T	GRCh37
NC_000017.9:g.58920130A>T	NCBI36
NG_011648.1:g.16965A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2546A>T MANE Select	ENSP00000290866.4:p.Tyr849Phe
ENST00000290863.10:c.824A>T	ENSP00000290863.6:p.Tyr275Phe
ENST00000290866.9:c.2546A>T	ENSP00000290866.4:p.Tyr849Phe
ENST00000413513.7:c.824A>T	ENSP00000392247.3:p.Tyr275Phe
ENST00000428043.5:c.2546A>T	ENSP00000397593.2:p.Tyr849Phe
ENST00000577647.2:c.824A>T	ENSP00000464149.1:p.Tyr275Phe
ENST00000578839.5:c.*519+246A>T	ENSP00000462110.2:n.*519+246A>T
ENST00000579204.1:c.805A>T	ENSP00000464629.1:n.805A>T
ENST00000579314.5:c.*275A>T	ENSP00000462599.1:n.*275A>T
ENST00000582005.5:c.*466A>T	ENSP00000462002.1:n.*466A>T
ENST00000582761.1:c.314A>T	ENSP00000462909.1:p.Tyr105Phe
ENST00000584865.5:n.492A>T
NM_000789.3:c.2546A>T	NP_000780.1:p.Tyr849Phe
NM_001178057.1:c.824A>T	NP_001171528.1:p.Tyr275Phe
NM_152830.2:c.824A>T	NP_690043.1:p.Tyr275Phe
XM_005257110.1:c.1997A>T	XP_005257167.1:p.Tyr666Phe
XM_006721737.2:c.884A>T	XP_006721800.2:p.Tyr295Phe
XM_006721737.3:c.884A>T	XP_006721800.2:p.Tyr295Phe
NM_000789.4:c.2546A>T MANE Select	NP_000780.1:p.Tyr849Phe
NM_001178057.2:c.824A>T	NP_001171528.1:p.Tyr275Phe
NM_152830.3:c.824A>T	NP_690043.1:p.Tyr275Phe
NM_001382700.1:c.1979A>T	NP_001369629.1:p.Tyr660Phe
NM_001382701.1:c.1694A>T	NP_001369630.1:p.Tyr565Phe
NM_001382702.1:c.379+246A>T	NP_001369631.1:n.379+246A>T
NR_168483.1:n.924A>T