Canonical Allele Identifier: CA803452973

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1271888171
• gnomAD v3: 5-126546454-T-C
• gnomAD v4: 5-126546454-T-C
• MyVariant Identifiers: chr5:g.125882146T>C (hg19) ; chr5:g.126546454T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546454T>C , CM000667.2:g.126546454T>C	GRCh38
NC_000005.9:g.125882146T>C , CM000667.1:g.125882146T>C	GRCh37
NC_000005.8:g.125910045T>C	NCBI36
NG_008600.2:g.53937A>G
NG_008600.3:g.53937A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1490-55A>G MANE Select	ENSP00000387123.3:n.1490-55A>G
ENST00000458249.6:c.*1399-55A>G	ENSP00000403929.1:n.*1399-55A>G
ENST00000485852.7:n.237-55A>G
ENST00000497231.7:n.1917-55A>G
ENST00000635851.1:c.1488-55A>G
ENST00000636225.1:c.*1434-55A>G	ENSP00000490797.1:n.*1434-55A>G
ENST00000636286.1:n.1255-55A>G
ENST00000636482.1:n.1024-55A>G
ENST00000636743.1:c.1370-55A>G	ENSP00000489725.1:n.1370-55A>G
ENST00000636808.1:c.*1299-55A>G	ENSP00000490833.1:n.*1299-55A>G
ENST00000636872.1:c.1650-55A>G	ENSP00000490919.1:n.1650-55A>G
ENST00000636879.1:c.1535-55A>G	ENSP00000490811.1:n.1535-55A>G
ENST00000636886.1:c.1289-55A>G	ENSP00000490371.1:n.1289-55A>G
ENST00000637206.1:c.1310-55A>G	ENSP00000489895.1:n.1310-55A>G
ENST00000637272.1:c.1481-55A>G	ENSP00000489686.1:n.1481-55A>G
ENST00000637292.1:c.946-55A>G
ENST00000637782.1:c.1490-55A>G	ENSP00000490024.1:n.1490-55A>G
ENST00000638008.1:c.*1334-55A>G	ENSP00000490400.1:n.*1334-55A>G
ENST00000638010.1:n.1436-55A>G
ENST00000409134.7:c.1490-55A>G	ENSP00000387123.3:n.1490-55A>G
ENST00000447989.6:c.1379-55A>G	ENSP00000414132.2:n.1379-55A>G
ENST00000485852.6:n.237-55A>G
ENST00000497231.6:n.1700-55A>G
ENST00000553117.5:c.1298-55A>G	ENSP00000448593.1:n.1298-55A>G
NM_001182.4:c.1490-55A>G	NP_001173.2:n.1490-55A>G
NM_001201377.1:c.1406-55A>G	NP_001188306.1:n.1406-55A>G
NM_001202404.1:c.1379-55A>G	NP_001189333.1:n.1379-55A>G
XM_011543417.1:c.1085-55A>G	XP_011541719.1:n.1085-55A>G
XM_011543417.2:c.1085-55A>G	XP_011541719.1:n.1085-55A>G
NM_001182.5:c.1490-55A>G MANE Select	NP_001173.2:n.1490-55A>G
NM_001201377.2:c.1406-55A>G	NP_001188306.1:n.1406-55A>G
NM_001202404.2:c.1298-55A>G	NP_001189333.2:n.1298-55A>G