Canonical Allele Identifier: CA626840126

Gene: ACE

Linked Data

• dbSNP Id: rs1339362479
• gnomAD v2: 17-61558149-G-T
• gnomAD v3: 17-63480788-G-T
• gnomAD v4: 17-63480788-G-T
• MyVariant Identifiers: chr17:g.61558149G>T (hg19) ; chr17:g.63480788G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63480788G>T , CM000679.2:g.63480788G>T	GRCh38
NC_000017.10:g.61558149G>T , CM000679.1:g.61558149G>T	GRCh37
NC_000017.9:g.58911881G>T	NCBI36
NG_011648.1:g.8716G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.847+260G>T MANE Select	ENSP00000290866.4:n.847+260G>T
ENST00000290866.9:c.847+260G>T	ENSP00000290866.4:n.847+260G>T
ENST00000428043.5:c.847+260G>T	ENSP00000397593.2:n.847+260G>T
ENST00000582627.1:c.847+260G>T	ENSP00000462280.1:n.847+260G>T
ENST00000582678.5:c.*246+260G>T	ENSP00000462995.1:n.*246+260G>T
ENST00000584529.5:n.881+260G>T
NM_000789.3:c.847+260G>T	NP_000780.1:n.847+260G>T
XM_005257110.1:c.298+260G>T	XP_005257167.1:n.298+260G>T
NM_000789.4:c.847+260G>T MANE Select	NP_000780.1:n.847+260G>T
NM_001382700.1:c.374+260G>T	NP_001369629.1:n.374+260G>T
NM_001382701.1:c.-6+260G>T	NP_001369630.1:n.-6+260G>T