Canonical Allele Identifier: CA400540809

Gene: ACE

Linked Data

• dbSNP Id: rs1416423148
• gnomAD v2: 17-61555404-T-C
• gnomAD v4: 17-63478043-T-C
• MyVariant Identifiers: chr17:g.61555404T>C (hg19) ; chr17:g.63478043T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478043T>C , CM000679.2:g.63478043T>C	GRCh38
NC_000017.10:g.61555404T>C , CM000679.1:g.61555404T>C	GRCh37
NC_000017.9:g.58909136T>C	NCBI36
NG_011648.1:g.5971T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.362T>C MANE Select	ENSP00000290866.4:p.Ile121Thr
ENST00000290866.9:c.362T>C	ENSP00000290866.4:p.Ile121Thr
ENST00000428043.5:c.362T>C	ENSP00000397593.2:p.Ile121Thr
ENST00000579462.1:n.387T>C
ENST00000580318.1:n.551T>C
ENST00000582627.1:c.362T>C	ENSP00000462280.1:p.Ile121Thr
ENST00000582678.5:c.362T>C	ENSP00000462995.1:p.Ile121Thr
ENST00000583336.5:n.396T>C
ENST00000584529.5:n.396T>C
NM_000789.3:c.362T>C	NP_000780.1:p.Ile121Thr
XM_005257110.1:c.-94T>C	XP_005257167.1:n.-94T>C
NM_000789.4:c.362T>C MANE Select	NP_000780.1:p.Ile121Thr
NM_001382700.1:c.127T>C	NP_001369629.1:p.Ser43Pro
NM_001382701.1:c.-253T>C	NP_001369630.1:n.-253T>C