Canonical Allele Identifier: CA400540807
Gene: ACE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63478042A>C , CM000679.2:g.63478042A>C GRCh38
NC_000017.10:g.61555403A>C , CM000679.1:g.61555403A>C GRCh37
NC_000017.9:g.58909135A>C NCBI36
NG_011648.1:g.5970A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.361A>C MANE Select ENSP00000290866.4:p.Ile121Leu
ENST00000290866.9:c.361A>C ENSP00000290866.4:p.Ile121Leu
ENST00000428043.5:c.361A>C ENSP00000397593.2:p.Ile121Leu
ENST00000579462.1:n.386A>C
ENST00000580318.1:n.550A>C
ENST00000582627.1:c.361A>C ENSP00000462280.1:p.Ile121Leu
ENST00000582678.5:c.361A>C ENSP00000462995.1:p.Ile121Leu
ENST00000583336.5:n.395A>C
ENST00000584529.5:n.395A>C
NM_000789.3:c.361A>C NP_000780.1:p.Ile121Leu
XM_005257110.1:c.-95A>C XP_005257167.1:n.-95A>C
NM_000789.4:c.361A>C MANE Select NP_000780.1:p.Ile121Leu
NM_001382700.1:c.126A>C NP_001369629.1:p.Ser42=
NM_001382701.1:c.-254A>C NP_001369630.1:n.-254A>C