Canonical Allele Identifier: CA360722842

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125887735A>T (hg19) ; chr5:g.126552043A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552043A>T , CM000667.2:g.126552043A>T	GRCh38
NC_000005.9:g.125887735A>T , CM000667.1:g.125887735A>T	GRCh37
NC_000005.8:g.125915634A>T	NCBI36
NG_008600.2:g.48348T>A
NG_008600.3:g.48348T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1295T>A MANE Select	ENSP00000387123.3:p.Ile432Asn
ENST00000458249.6:c.*1204T>A	ENSP00000403929.1:n.*1204T>A
ENST00000497231.7:n.1722T>A
ENST00000503281.6:c.884T>A
ENST00000635851.1:c.1293T>A
ENST00000636062.1:n.1190T>A
ENST00000636225.1:c.*1239T>A	ENSP00000490797.1:n.*1239T>A
ENST00000636286.1:n.1013T>A
ENST00000636482.1:n.782T>A
ENST00000636743.1:c.1175T>A	ENSP00000489725.1:p.Ile392Asn
ENST00000636808.1:c.*1104T>A	ENSP00000490833.1:n.*1104T>A
ENST00000636872.1:c.1455T>A	ENSP00000490919.1:n.1455T>A
ENST00000636879.1:c.1340T>A	ENSP00000490811.1:p.Ile447Asn
ENST00000636886.1:c.1094T>A	ENSP00000490371.1:p.Ile365Asn
ENST00000637206.1:c.1115T>A	ENSP00000489895.1:p.Ile372Asn
ENST00000637272.1:c.1286T>A	ENSP00000489686.1:p.Ile429Asn
ENST00000637292.1:c.774-1750T>A
ENST00000637782.1:c.1295T>A	ENSP00000490024.1:p.Ile432Asn
ENST00000638008.1:c.*1139T>A	ENSP00000490400.1:n.*1139T>A
ENST00000638010.1:n.1241T>A
ENST00000409134.7:c.1295T>A	ENSP00000387123.3:p.Ile432Asn
ENST00000447989.6:c.1184T>A	ENSP00000414132.2:p.Ile395Asn
ENST00000476328.1:n.60T>A
ENST00000497231.6:n.1505T>A
ENST00000503281.5:c.884T>A
ENST00000553117.5:c.1103T>A	ENSP00000448593.1:p.Ile368Asn
NM_001182.4:c.1295T>A	NP_001173.2:p.Ile432Asn
NM_001201377.1:c.1211T>A	NP_001188306.1:p.Ile404Asn
NM_001202404.1:c.1184T>A	NP_001189333.1:p.Ile395Asn
XM_011543417.1:c.890T>A	XP_011541719.1:p.Ile297Asn
XM_011543417.2:c.890T>A	XP_011541719.1:p.Ile297Asn
NM_001182.5:c.1295T>A MANE Select	NP_001173.2:p.Ile432Asn
NM_001201377.2:c.1211T>A	NP_001188306.1:p.Ile404Asn
NM_001202404.2:c.1103T>A	NP_001189333.2:p.Ile368Asn