Canonical Allele Identifier: CA2546739780

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126544962-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544962C>A , CM000667.2:g.126544962C>A	GRCh38
NC_000005.9:g.125880654C>A , CM000667.1:g.125880654C>A	GRCh37
NC_000005.8:g.125908553C>A	NCBI36
NG_008600.2:g.55429G>T
NG_008600.3:g.55429G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.*3G>T MANE Select	ENSP00000387123.3:n.*3G>T
ENST00000458249.6:c.*1532G>T	ENSP00000403929.1:n.*1532G>T
ENST00000485852.7:n.370G>T
ENST00000497231.7:n.2050G>T
ENST00000635851.1:c.1563+1362G>T
ENST00000636286.1:n.1388G>T
ENST00000636482.1:n.1157G>T
ENST00000636743.1:c.*3G>T	ENSP00000489725.1:n.*3G>T
ENST00000636808.1:c.*1432G>T	ENSP00000490833.1:n.*1432G>T
ENST00000636872.1:c.1783G>T	ENSP00000490919.1:n.1783G>T
ENST00000636879.1:c.*3G>T	ENSP00000490811.1:n.*3G>T
ENST00000636886.1:c.*3G>T	ENSP00000490371.1:n.*3G>T
ENST00000637206.1:c.*3G>T	ENSP00000489895.1:n.*3G>T
ENST00000637272.1:c.*3G>T	ENSP00000489686.1:n.*3G>T
ENST00000637292.1:c.1079G>T
ENST00000637782.1:c.1565+1362G>T	ENSP00000490024.1:n.1565+1362G>T
ENST00000638008.1:c.*1467G>T	ENSP00000490400.1:n.*1467G>T
ENST00000638010.1:n.1569G>T
ENST00000409134.7:c.*3G>T	ENSP00000387123.3:n.*3G>T
ENST00000447989.6:c.*3G>T	ENSP00000414132.2:n.*3G>T
ENST00000485852.6:n.370G>T
ENST00000497231.6:n.1833G>T
ENST00000553117.5:c.*3G>T	ENSP00000448593.1:n.*3G>T
NM_001182.4:c.*3G>T	NP_001173.2:n.*3G>T
NM_001201377.1:c.*3G>T	NP_001188306.1:n.*3G>T
NM_001202404.1:c.*3G>T	NP_001189333.1:n.*3G>T
XM_011543417.1:c.*3G>T	XP_011541719.1:n.*3G>T
XM_011543417.2:c.*3G>T	XP_011541719.1:n.*3G>T
NM_001182.5:c.*3G>T MANE Select	NP_001173.2:n.*3G>T
NM_001201377.2:c.*3G>T	NP_001188306.1:n.*3G>T
NM_001202404.2:c.*3G>T	NP_001189333.2:n.*3G>T