Canonical Allele Identifier: CA501341513

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61555414G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478053G>C , CM000679.2:g.63478053G>C	GRCh38
NC_000017.10:g.61555414G>C , CM000679.1:g.61555414G>C	GRCh37
NC_000017.9:g.58909146G>C	NCBI36
NG_011648.1:g.5981G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.372G>C MANE Select	ENSP00000290866.4:p.Val124=
ENST00000290866.9:c.372G>C	ENSP00000290866.4:p.Val124=
ENST00000428043.5:c.372G>C	ENSP00000397593.2:p.Val124=
ENST00000579462.1:n.397G>C
ENST00000580318.1:n.561G>C
ENST00000582627.1:c.372G>C	ENSP00000462280.1:p.Val124=
ENST00000582678.5:c.372G>C	ENSP00000462995.1:p.Val124=
ENST00000583336.5:n.406G>C
ENST00000584529.5:n.406G>C
NM_000789.3:c.372G>C	NP_000780.1:p.Val124=
XM_005257110.1:c.-84G>C	XP_005257167.1:n.-84G>C
NM_000789.4:c.372G>C MANE Select	NP_000780.1:p.Val124=
NM_001382700.1:c.137G>C	NP_001369629.1:p.Cys46Ser
NM_001382701.1:c.-243G>C	NP_001369630.1:n.-243G>C