Canonical Allele Identifier: CA1580440314

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1749729907
• gnomAD v4: 5-126544791-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544791G>A , CM000667.2:g.126544791G>A	GRCh38
NC_000005.9:g.125880483G>A , CM000667.1:g.125880483G>A	GRCh37
NC_000005.8:g.125908382G>A	NCBI36
NG_008600.2:g.55600C>T
NG_008600.3:g.55600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.*174C>T MANE Select	ENSP00000387123.3:n.*174C>T
ENST00000458249.6:c.*1703C>T	ENSP00000403929.1:n.*1703C>T
ENST00000485852.7:n.541C>T
ENST00000497231.7:n.2221C>T
ENST00000635851.1:c.1563+1533C>T
ENST00000636482.1:n.1328C>T
ENST00000636743.1:c.*174C>T	ENSP00000489725.1:n.*174C>T
ENST00000636808.1:c.*1603C>T	ENSP00000490833.1:n.*1603C>T
ENST00000636872.1:c.1954C>T	ENSP00000490919.1:n.1954C>T
ENST00000636879.1:c.*174C>T	ENSP00000490811.1:n.*174C>T
ENST00000636886.1:c.*174C>T	ENSP00000490371.1:n.*174C>T
ENST00000637206.1:c.*174C>T	ENSP00000489895.1:n.*174C>T
ENST00000637272.1:c.*174C>T	ENSP00000489686.1:n.*174C>T
ENST00000637782.1:c.1565+1533C>T	ENSP00000490024.1:n.1565+1533C>T
ENST00000638010.1:n.1740C>T
ENST00000409134.7:c.*174C>T	ENSP00000387123.3:n.*174C>T
ENST00000447989.6:c.*174C>T	ENSP00000414132.2:n.*174C>T
ENST00000485852.6:n.541C>T
ENST00000497231.6:n.2004C>T
ENST00000553117.5:c.*174C>T	ENSP00000448593.1:n.*174C>T
NM_001182.4:c.*174C>T	NP_001173.2:n.*174C>T
NM_001201377.1:c.*174C>T	NP_001188306.1:n.*174C>T
NM_001202404.1:c.*174C>T	NP_001189333.1:n.*174C>T
XM_011543417.1:c.*174C>T	XP_011541719.1:n.*174C>T
XM_011543417.2:c.*174C>T	XP_011541719.1:n.*174C>T
NM_001182.5:c.*174C>T MANE Select	NP_001173.2:n.*174C>T
NM_001201377.2:c.*174C>T	NP_001188306.1:n.*174C>T
NM_001202404.2:c.*174C>T	NP_001189333.2:n.*174C>T