Canonical Allele Identifier: CA360719383

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125882071C>A (hg19) ; chr5:g.126546379C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546379C>A , CM000667.2:g.126546379C>A	GRCh38
NC_000005.9:g.125882071C>A , CM000667.1:g.125882071C>A	GRCh37
NC_000005.8:g.125909970C>A	NCBI36
NG_008600.2:g.54012G>T
NG_008600.3:g.54012G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1510G>T MANE Select	ENSP00000387123.3:p.Gly504Cys
ENST00000458249.6:c.*1419G>T	ENSP00000403929.1:n.*1419G>T
ENST00000485852.7:n.257G>T
ENST00000497231.7:n.1937G>T
ENST00000635851.1:c.1508G>T
ENST00000636225.1:c.*1454G>T	ENSP00000490797.1:n.*1454G>T
ENST00000636286.1:n.1275G>T
ENST00000636482.1:n.1044G>T
ENST00000636743.1:c.1390G>T	ENSP00000489725.1:p.Gly464Cys
ENST00000636808.1:c.*1319G>T	ENSP00000490833.1:n.*1319G>T
ENST00000636872.1:c.1670G>T	ENSP00000490919.1:n.1670G>T
ENST00000636879.1:c.1555G>T	ENSP00000490811.1:p.Gly519Cys
ENST00000636886.1:c.1309G>T	ENSP00000490371.1:p.Gly437Cys
ENST00000637206.1:c.1330G>T	ENSP00000489895.1:p.Gly444Cys
ENST00000637272.1:c.1501G>T	ENSP00000489686.1:p.Gly501Cys
ENST00000637292.1:c.966G>T
ENST00000637782.1:c.1510G>T	ENSP00000490024.1:p.Gly504Cys
ENST00000638008.1:c.*1354G>T	ENSP00000490400.1:n.*1354G>T
ENST00000638010.1:n.1456G>T
ENST00000409134.7:c.1510G>T	ENSP00000387123.3:p.Gly504Cys
ENST00000447989.6:c.1399G>T	ENSP00000414132.2:p.Gly467Cys
ENST00000485852.6:n.257G>T
ENST00000497231.6:n.1720G>T
ENST00000553117.5:c.1318G>T	ENSP00000448593.1:p.Gly440Cys
NM_001182.4:c.1510G>T	NP_001173.2:p.Gly504Cys
NM_001201377.1:c.1426G>T	NP_001188306.1:p.Gly476Cys
NM_001202404.1:c.1399G>T	NP_001189333.1:p.Gly467Cys
XM_011543417.1:c.1105G>T	XP_011541719.1:p.Gly369Cys
XM_011543417.2:c.1105G>T	XP_011541719.1:p.Gly369Cys
NM_001182.5:c.1510G>T MANE Select	NP_001173.2:p.Gly504Cys
NM_001201377.2:c.1426G>T	NP_001188306.1:p.Gly476Cys
NM_001202404.2:c.1318G>T	NP_001189333.2:p.Gly440Cys