Canonical Allele Identifier: CA360730924

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126577079-C-T
• MyVariant Identifiers: chr5:g.125912771C>T (hg19) ; chr5:g.126577079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577079C>T , CM000667.2:g.126577079C>T	GRCh38
NC_000005.9:g.125912771C>T , CM000667.1:g.125912771C>T	GRCh37
NC_000005.8:g.125940670C>T	NCBI36
NG_008600.2:g.23312G>A
NG_008600.3:g.23312G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.650G>A MANE Select	ENSP00000387123.3:p.Trp217Ter
ENST00000412186.2:c.526G>A	ENSP00000414536.2:n.526G>A
ENST00000413020.6:c.650G>A	ENSP00000487936.1:p.Trp217Ter
ENST00000458249.6:c.*559G>A	ENSP00000403929.1:n.*559G>A
ENST00000503281.6:c.239G>A
ENST00000509459.6:c.198G>A
ENST00000511266.6:n.1372G>A
ENST00000635851.1:c.648G>A
ENST00000636062.1:n.545G>A
ENST00000636225.1:c.*459G>A	ENSP00000490797.1:n.*459G>A
ENST00000636286.1:n.368G>A
ENST00000636743.1:c.530G>A	ENSP00000489725.1:p.Trp177Ter
ENST00000636808.1:c.*459G>A	ENSP00000490833.1:n.*459G>A
ENST00000636872.1:c.810G>A	ENSP00000490919.1:n.810G>A
ENST00000636879.1:c.695G>A	ENSP00000490811.1:p.Trp232Ter
ENST00000636886.1:c.449G>A	ENSP00000490371.1:p.Trp150Ter
ENST00000637206.1:c.650G>A	ENSP00000489895.1:p.Trp217Ter
ENST00000637272.1:c.650G>A	ENSP00000489686.1:p.Trp217Ter
ENST00000637292.1:c.303G>A
ENST00000637782.1:c.650G>A	ENSP00000490024.1:p.Trp217Ter
ENST00000637964.1:c.596G>A	ENSP00000490291.1:p.Trp199Ter
ENST00000638008.1:c.*592G>A	ENSP00000490400.1:n.*592G>A
ENST00000409134.7:c.650G>A	ENSP00000387123.3:p.Trp217Ter
ENST00000413020.5:c.650G>A	ENSP00000487936.1:p.Trp217Ter
ENST00000433026.5:n.177G>A
ENST00000447989.6:c.731G>A	ENSP00000414132.2:p.Trp244Ter
ENST00000458249.5:c.810G>A	ENSP00000403929.1:n.810G>A
ENST00000503281.5:c.239G>A
ENST00000509459.5:c.198G>A
ENST00000510111.6:c.563G>A	ENSP00000447388.1:p.Trp188Ter
ENST00000511266.5:n.481G>A
ENST00000553117.5:c.650G>A	ENSP00000448593.1:p.Trp217Ter
NM_001182.4:c.650G>A	NP_001173.2:p.Trp217Ter
NM_001201377.1:c.566G>A	NP_001188306.1:p.Trp189Ter
NM_001202404.1:c.731G>A	NP_001189333.1:p.Trp244Ter
XM_011543417.1:c.245G>A	XP_011541719.1:p.Trp82Ter
XM_011543417.2:c.245G>A	XP_011541719.1:p.Trp82Ter
NM_001182.5:c.650G>A MANE Select	NP_001173.2:p.Trp217Ter
NM_001201377.2:c.566G>A	NP_001188306.1:p.Trp189Ter
NM_001202404.2:c.650G>A	NP_001189333.2:p.Trp217Ter