Canonical Allele Identifier: CA360719278

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125882062C>A (hg19) ; chr5:g.126546370C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546370C>A , CM000667.2:g.126546370C>A	GRCh38
NC_000005.9:g.125882062C>A , CM000667.1:g.125882062C>A	GRCh37
NC_000005.8:g.125909961C>A	NCBI36
NG_008600.2:g.54021G>T
NG_008600.3:g.54021G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1519G>T MANE Select	ENSP00000387123.3:p.Glu507Ter
ENST00000458249.6:c.*1428G>T	ENSP00000403929.1:n.*1428G>T
ENST00000485852.7:n.266G>T
ENST00000497231.7:n.1946G>T
ENST00000635851.1:c.1517G>T
ENST00000636225.1:c.*1463G>T	ENSP00000490797.1:n.*1463G>T
ENST00000636286.1:n.1284G>T
ENST00000636482.1:n.1053G>T
ENST00000636743.1:c.1399G>T	ENSP00000489725.1:p.Glu467Ter
ENST00000636808.1:c.*1328G>T	ENSP00000490833.1:n.*1328G>T
ENST00000636872.1:c.1679G>T	ENSP00000490919.1:n.1679G>T
ENST00000636879.1:c.1564G>T	ENSP00000490811.1:p.Glu522Ter
ENST00000636886.1:c.1318G>T	ENSP00000490371.1:p.Glu440Ter
ENST00000637206.1:c.1339G>T	ENSP00000489895.1:p.Glu447Ter
ENST00000637272.1:c.1510G>T	ENSP00000489686.1:p.Glu504Ter
ENST00000637292.1:c.975G>T
ENST00000637782.1:c.1519G>T	ENSP00000490024.1:p.Glu507Ter
ENST00000638008.1:c.*1363G>T	ENSP00000490400.1:n.*1363G>T
ENST00000638010.1:n.1465G>T
ENST00000409134.7:c.1519G>T	ENSP00000387123.3:p.Glu507Ter
ENST00000447989.6:c.1408G>T	ENSP00000414132.2:p.Glu470Ter
ENST00000485852.6:n.266G>T
ENST00000497231.6:n.1729G>T
ENST00000553117.5:c.1327G>T	ENSP00000448593.1:p.Glu443Ter
NM_001182.4:c.1519G>T	NP_001173.2:p.Glu507Ter
NM_001201377.1:c.1435G>T	NP_001188306.1:p.Glu479Ter
NM_001202404.1:c.1408G>T	NP_001189333.1:p.Glu470Ter
XM_011543417.1:c.1114G>T	XP_011541719.1:p.Glu372Ter
XM_011543417.2:c.1114G>T	XP_011541719.1:p.Glu372Ter
NM_001182.5:c.1519G>T MANE Select	NP_001173.2:p.Glu507Ter
NM_001201377.2:c.1435G>T	NP_001188306.1:p.Glu479Ter
NM_001202404.2:c.1327G>T	NP_001189333.2:p.Glu443Ter