Canonical Allele Identifier: CA501341544

Gene: ACE

Linked Data

• dbSNP Id: rs2049648783
• gnomAD v4: 17-63478083-G-T
• MyVariant Identifiers: chr17:g.61555444G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478083G>T , CM000679.2:g.63478083G>T	GRCh38
NC_000017.10:g.61555444G>T , CM000679.1:g.61555444G>T	GRCh37
NC_000017.9:g.58909176G>T	NCBI36
NG_011648.1:g.6011G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.402G>T MANE Select	ENSP00000290866.4:p.Leu134=
ENST00000290866.9:c.402G>T	ENSP00000290866.4:p.Leu134=
ENST00000428043.5:c.402G>T	ENSP00000397593.2:p.Leu134=
ENST00000579462.1:n.427G>T
ENST00000580318.1:n.591G>T
ENST00000582627.1:c.402G>T	ENSP00000462280.1:p.Leu134=
ENST00000582678.5:c.402G>T	ENSP00000462995.1:p.Leu134=
ENST00000583336.5:n.436G>T
ENST00000584529.5:n.436G>T
NM_000789.3:c.402G>T	NP_000780.1:p.Leu134=
XM_005257110.1:c.-54G>T	XP_005257167.1:n.-54G>T
NM_000789.4:c.402G>T MANE Select	NP_000780.1:p.Leu134=
NM_001382700.1:c.167G>T	NP_001369629.1:p.Trp56Leu
NM_001382701.1:c.-213G>T	NP_001369630.1:n.-213G>T