Canonical Allele Identifier: CA3389539

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126555936C>T , CM000667.2:g.126555936C>T	GRCh38
NC_000005.9:g.125891628C>T , CM000667.1:g.125891628C>T	GRCh37
NC_000005.8:g.125919527C>T	NCBI36
NG_008600.2:g.44455G>A
NG_008600.3:g.44455G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1088G>A MANE Select	NP_001173.2:p.Trp363Ter
ENST00000409134.8:c.1088G>A MANE Select	ENSP00000387123.3:p.Trp363Ter
NM_001182.4:c.1088G>A	NP_001173.2:p.Trp363Ter
NM_001201377.1:c.1004G>A	NP_001188306.1:p.Trp335Ter
NM_001201377.2:c.1004G>A	NP_001188306.1:p.Trp335Ter
NM_001202404.1:c.1089+3304G>A	NP_001189333.1:n.1089+3304G>A
NM_001202404.2:c.1008+3304G>A	NP_001189333.2:n.1008+3304G>A
ENST00000409134.7:c.1088G>A	ENSP00000387123.3:p.Trp363Ter
ENST00000447989.6:c.1089+3304G>A	ENSP00000414132.2:n.1089+3304G>A
ENST00000458249.6:c.*997G>A	ENSP00000403929.1:n.*997G>A
ENST00000497231.6:n.1298G>A
ENST00000497231.7:n.1515G>A
ENST00000503281.5:c.677G>A
ENST00000503281.6:c.677G>A
ENST00000553117.5:c.1008+3304G>A	ENSP00000448593.1:n.1008+3304G>A
ENST00000635851.1:c.1086G>A
ENST00000636062.1:n.983G>A
ENST00000636225.1:c.*1032G>A	ENSP00000490797.1:n.*1032G>A
ENST00000636286.1:n.806G>A
ENST00000636482.1:n.575G>A
ENST00000636743.1:c.968G>A	ENSP00000489725.1:p.Trp323Ter
ENST00000636808.1:c.*897G>A	ENSP00000490833.1:n.*897G>A
ENST00000636872.1:c.1248G>A	ENSP00000490919.1:n.1248G>A
ENST00000636879.1:c.1133G>A	ENSP00000490811.1:p.Trp378Ter
ENST00000636886.1:c.887G>A	ENSP00000490371.1:p.Trp296Ter
ENST00000637206.1:c.914-1543G>A	ENSP00000489895.1:n.914-1543G>A
ENST00000637272.1:c.1079G>A	ENSP00000489686.1:p.Trp360Ter
ENST00000637292.1:c.661G>A
ENST00000637782.1:c.1088G>A	ENSP00000490024.1:p.Trp363Ter
ENST00000637964.1:c.1034G>A	ENSP00000490291.1:p.Trp345Ter
ENST00000638008.1:c.*932G>A	ENSP00000490400.1:n.*932G>A
XM_011543417.1:c.683G>A	XP_011541719.1:p.Trp228Ter
XM_011543417.2:c.683G>A	XP_011541719.1:p.Trp228Ter