Canonical Allele Identifier: CA400540828

Gene: ACE

Linked Data

• dbSNP Id: rs2049648205
• gnomAD v3: 17-63478052-T-C
• gnomAD v4: 17-63478052-T-C
• MyVariant Identifiers: chr17:g.61555413T>C (hg19) ; chr17:g.63478052T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478052T>C , CM000679.2:g.63478052T>C	GRCh38
NC_000017.10:g.61555413T>C , CM000679.1:g.61555413T>C	GRCh37
NC_000017.9:g.58909145T>C	NCBI36
NG_011648.1:g.5980T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.371T>C MANE Select	ENSP00000290866.4:p.Val124Ala
ENST00000290866.9:c.371T>C	ENSP00000290866.4:p.Val124Ala
ENST00000428043.5:c.371T>C	ENSP00000397593.2:p.Val124Ala
ENST00000579462.1:n.396T>C
ENST00000580318.1:n.560T>C
ENST00000582627.1:c.371T>C	ENSP00000462280.1:p.Val124Ala
ENST00000582678.5:c.371T>C	ENSP00000462995.1:p.Val124Ala
ENST00000583336.5:n.405T>C
ENST00000584529.5:n.405T>C
NM_000789.3:c.371T>C	NP_000780.1:p.Val124Ala
XM_005257110.1:c.-85T>C	XP_005257167.1:n.-85T>C
NM_000789.4:c.371T>C MANE Select	NP_000780.1:p.Val124Ala
NM_001382700.1:c.136T>C	NP_001369629.1:p.Cys46Arg
NM_001382701.1:c.-244T>C	NP_001369630.1:n.-244T>C