Canonical Allele Identifier: CA400540646

Gene: ACE

Linked Data

• dbSNP Id: rs2049646473
• gnomAD v4: 17-63477971-G-C
• MyVariant Identifiers: chr17:g.61555332G>C (hg19) ; chr17:g.63477971G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477971G>C , CM000679.2:g.63477971G>C	GRCh38
NC_000017.10:g.61555332G>C , CM000679.1:g.61555332G>C	GRCh37
NC_000017.9:g.58909064G>C	NCBI36
NG_011648.1:g.5899G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.290G>C MANE Select	ENSP00000290866.4:p.Trp97Ser
ENST00000290866.9:c.290G>C	ENSP00000290866.4:p.Trp97Ser
ENST00000428043.5:c.290G>C	ENSP00000397593.2:p.Trp97Ser
ENST00000579462.1:n.315G>C
ENST00000580318.1:n.479G>C
ENST00000582627.1:c.290G>C	ENSP00000462280.1:p.Trp97Ser
ENST00000582678.5:c.290G>C	ENSP00000462995.1:p.Trp97Ser
ENST00000583336.5:n.324G>C
ENST00000584529.5:n.324G>C
NM_000789.3:c.290G>C	NP_000780.1:p.Trp97Ser
XM_005257110.1:c.-166G>C	XP_005257167.1:n.-166G>C
NM_000789.4:c.290G>C MANE Select	NP_000780.1:p.Trp97Ser
NM_001382700.1:c.55G>C	NP_001369629.1:p.Gly19Arg
NM_001382701.1:c.-325G>C	NP_001369630.1:n.-325G>C