Canonical Allele Identifier: CA360721237

Gene: ALDH7A1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126550001G>T , CM000667.2:g.126550001G>T	GRCh38
NC_000005.9:g.125885693G>T , CM000667.1:g.125885693G>T	GRCh37
NC_000005.8:g.125913592G>T	NCBI36
NG_008600.2:g.50390C>A
NG_008600.3:g.50390C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1417C>A MANE Select	ENSP00000387123.3:p.Pro473Thr
ENST00000458249.6:c.*1326C>A	ENSP00000403929.1:n.*1326C>A
ENST00000485852.7:n.164C>A
ENST00000497231.7:n.1844C>A
ENST00000635851.1:c.1415C>A
ENST00000636062.1:n.1312C>A
ENST00000636225.1:c.*1361C>A	ENSP00000490797.1:n.*1361C>A
ENST00000636286.1:n.1182C>A
ENST00000636482.1:n.951C>A
ENST00000636743.1:c.1297C>A	ENSP00000489725.1:p.Pro433Thr
ENST00000636808.1:c.*1226C>A	ENSP00000490833.1:n.*1226C>A
ENST00000636872.1:c.1577C>A	ENSP00000490919.1:n.1577C>A
ENST00000636879.1:c.1462C>A	ENSP00000490811.1:p.Pro488Thr
ENST00000636886.1:c.1216C>A	ENSP00000490371.1:p.Pro406Thr
ENST00000637206.1:c.1237C>A	ENSP00000489895.1:p.Pro413Thr
ENST00000637272.1:c.1408C>A	ENSP00000489686.1:p.Pro470Thr
ENST00000637292.1:c.873C>A
ENST00000637782.1:c.1417C>A	ENSP00000490024.1:p.Pro473Thr
ENST00000638008.1:c.*1261C>A	ENSP00000490400.1:n.*1261C>A
ENST00000638010.1:n.1363C>A
ENST00000409134.7:c.1417C>A	ENSP00000387123.3:p.Pro473Thr
ENST00000447989.6:c.1306C>A	ENSP00000414132.2:p.Pro436Thr
ENST00000476328.1:n.375C>A
ENST00000485852.6:n.164C>A
ENST00000497231.6:n.1627C>A
ENST00000553117.5:c.1225C>A	ENSP00000448593.1:p.Pro409Thr
NM_001182.4:c.1417C>A	NP_001173.2:p.Pro473Thr
NM_001201377.1:c.1333C>A	NP_001188306.1:p.Pro445Thr
NM_001202404.1:c.1306C>A	NP_001189333.1:p.Pro436Thr
XM_011543417.1:c.1012C>A	XP_011541719.1:p.Pro338Thr
XM_011543417.2:c.1012C>A	XP_011541719.1:p.Pro338Thr
NM_001182.5:c.1417C>A MANE Select	NP_001173.2:p.Pro473Thr
NM_001201377.2:c.1333C>A	NP_001188306.1:p.Pro445Thr
NM_001202404.2:c.1225C>A	NP_001189333.2:p.Pro409Thr