Canonical Allele Identifier: CA446280195

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 2914968
• ClinVar RCV Id: RCV003632872
• gnomAD v4: 5-126546332-C-T
• MyVariant Identifiers: chr5:g.125882024C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546332C>T , CM000667.2:g.126546332C>T	GRCh38
NC_000005.9:g.125882024C>T , CM000667.1:g.125882024C>T	GRCh37
NC_000005.8:g.125909923C>T	NCBI36
NG_008600.2:g.54059G>A
NG_008600.3:g.54059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1557G>A MANE Select	ENSP00000387123.3:p.Arg519=
ENST00000458249.6:c.*1466G>A	ENSP00000403929.1:n.*1466G>A
ENST00000485852.7:n.304G>A
ENST00000497231.7:n.1984G>A
ENST00000635851.1:c.1555G>A
ENST00000636286.1:n.1322G>A
ENST00000636482.1:n.1091G>A
ENST00000636743.1:c.1437G>A	ENSP00000489725.1:p.Arg479=
ENST00000636808.1:c.*1366G>A	ENSP00000490833.1:n.*1366G>A
ENST00000636872.1:c.1717G>A	ENSP00000490919.1:n.1717G>A
ENST00000636879.1:c.1602G>A	ENSP00000490811.1:p.Arg534=
ENST00000636886.1:c.1356G>A	ENSP00000490371.1:p.Arg452=
ENST00000637206.1:c.1377G>A	ENSP00000489895.1:p.Arg459=
ENST00000637272.1:c.1548G>A	ENSP00000489686.1:p.Arg516=
ENST00000637292.1:c.1013G>A
ENST00000637782.1:c.1557G>A	ENSP00000490024.1:p.Arg519=
ENST00000638008.1:c.*1401G>A	ENSP00000490400.1:n.*1401G>A
ENST00000638010.1:n.1503G>A
ENST00000409134.7:c.1557G>A	ENSP00000387123.3:p.Arg519=
ENST00000447989.6:c.1446G>A	ENSP00000414132.2:p.Arg482=
ENST00000485852.6:n.304G>A
ENST00000497231.6:n.1767G>A
ENST00000553117.5:c.1365G>A	ENSP00000448593.1:p.Arg455=
NM_001182.4:c.1557G>A	NP_001173.2:p.Arg519=
NM_001201377.1:c.1473G>A	NP_001188306.1:p.Arg491=
NM_001202404.1:c.1446G>A	NP_001189333.1:p.Arg482=
XM_011543417.1:c.1152G>A	XP_011541719.1:p.Arg384=
XM_011543417.2:c.1152G>A	XP_011541719.1:p.Arg384=
NM_001182.5:c.1557G>A MANE Select	NP_001173.2:p.Arg519=
NM_001201377.2:c.1473G>A	NP_001188306.1:p.Arg491=
NM_001202404.2:c.1365G>A	NP_001189333.2:p.Arg455=