Canonical Allele Identifier: CA360718856

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125882026T>A (hg19) ; chr5:g.126546334T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546334T>A , CM000667.2:g.126546334T>A	GRCh38
NC_000005.9:g.125882026T>A , CM000667.1:g.125882026T>A	GRCh37
NC_000005.8:g.125909925T>A	NCBI36
NG_008600.2:g.54057A>T
NG_008600.3:g.54057A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1555A>T MANE Select	ENSP00000387123.3:p.Arg519Trp
ENST00000458249.6:c.*1464A>T	ENSP00000403929.1:n.*1464A>T
ENST00000485852.7:n.302A>T
ENST00000497231.7:n.1982A>T
ENST00000635851.1:c.1553A>T
ENST00000636286.1:n.1320A>T
ENST00000636482.1:n.1089A>T
ENST00000636743.1:c.1435A>T	ENSP00000489725.1:p.Arg479Trp
ENST00000636808.1:c.*1364A>T	ENSP00000490833.1:n.*1364A>T
ENST00000636872.1:c.1715A>T	ENSP00000490919.1:n.1715A>T
ENST00000636879.1:c.1600A>T	ENSP00000490811.1:p.Arg534Trp
ENST00000636886.1:c.1354A>T	ENSP00000490371.1:p.Arg452Trp
ENST00000637206.1:c.1375A>T	ENSP00000489895.1:p.Arg459Trp
ENST00000637272.1:c.1546A>T	ENSP00000489686.1:p.Arg516Trp
ENST00000637292.1:c.1011A>T
ENST00000637782.1:c.1555A>T	ENSP00000490024.1:p.Arg519Trp
ENST00000638008.1:c.*1399A>T	ENSP00000490400.1:n.*1399A>T
ENST00000638010.1:n.1501A>T
ENST00000409134.7:c.1555A>T	ENSP00000387123.3:p.Arg519Trp
ENST00000447989.6:c.1444A>T	ENSP00000414132.2:p.Arg482Trp
ENST00000485852.6:n.302A>T
ENST00000497231.6:n.1765A>T
ENST00000553117.5:c.1363A>T	ENSP00000448593.1:p.Arg455Trp
NM_001182.4:c.1555A>T	NP_001173.2:p.Arg519Trp
NM_001201377.1:c.1471A>T	NP_001188306.1:p.Arg491Trp
NM_001202404.1:c.1444A>T	NP_001189333.1:p.Arg482Trp
XM_011543417.1:c.1150A>T	XP_011541719.1:p.Arg384Trp
XM_011543417.2:c.1150A>T	XP_011541719.1:p.Arg384Trp
NM_001182.5:c.1555A>T MANE Select	NP_001173.2:p.Arg519Trp
NM_001201377.2:c.1471A>T	NP_001188306.1:p.Arg491Trp
NM_001202404.2:c.1363A>T	NP_001189333.2:p.Arg455Trp