Canonical Allele Identifier: CA400557949

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566086G>T (hg19) ; chr17:g.63488725G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488725G>T , CM000679.2:g.63488725G>T	GRCh38
NC_000017.10:g.61566086G>T , CM000679.1:g.61566086G>T	GRCh37
NC_000017.9:g.58919818G>T	NCBI36
NG_011648.1:g.16653G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2383G>T MANE Select	ENSP00000290866.4:p.Gly795Trp
ENST00000290863.10:c.661G>T	ENSP00000290863.6:p.Gly221Trp
ENST00000290866.9:c.2383G>T	ENSP00000290866.4:p.Gly795Trp
ENST00000413513.7:c.661G>T	ENSP00000392247.3:p.Gly221Trp
ENST00000428043.5:c.2383G>T	ENSP00000397593.2:p.Gly795Trp
ENST00000577647.2:c.661G>T	ENSP00000464149.1:p.Gly221Trp
ENST00000578839.5:c.*453G>T	ENSP00000462110.2:n.*453G>T
ENST00000579204.1:c.642G>T	ENSP00000464629.1:n.642G>T
ENST00000579314.5:c.*112G>T	ENSP00000462599.1:n.*112G>T
ENST00000582005.5:c.*303G>T	ENSP00000462002.1:n.*303G>T
ENST00000582761.1:c.151G>T	ENSP00000462909.1:p.Gly51Trp
ENST00000584865.5:n.329G>T
NM_000789.3:c.2383G>T	NP_000780.1:p.Gly795Trp
NM_001178057.1:c.661G>T	NP_001171528.1:p.Gly221Trp
NM_152830.2:c.661G>T	NP_690043.1:p.Gly221Trp
XM_005257110.1:c.1834G>T	XP_005257167.1:p.Gly612Trp
XM_006721737.2:c.721G>T	XP_006721800.2:p.Gly241Trp
XM_006721737.3:c.721G>T	XP_006721800.2:p.Gly241Trp
NM_000789.4:c.2383G>T MANE Select	NP_000780.1:p.Gly795Trp
NM_001178057.2:c.661G>T	NP_001171528.1:p.Gly221Trp
NM_152830.3:c.661G>T	NP_690043.1:p.Gly221Trp
NM_001382700.1:c.1816G>T	NP_001369629.1:p.Gly606Trp
NM_001382701.1:c.1531G>T	NP_001369630.1:p.Gly511Trp
NM_001382702.1:c.313G>T	NP_001369631.1:p.Gly105Trp
NR_168483.1:n.761G>T