Canonical Allele Identifier: CA313155

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 204823
• ClinVar RCV Id: RCV000186719 ; RCV001151276
• dbSNP Id: rs759591318
• ExAC: 5:125880652 C / T
• gnomAD v2: 5-125880652-C-T
• gnomAD v3: 5-126544960-C-T
• gnomAD v4: 5-126544960-C-T
• MyVariant Identifiers: chr5:g.125880652C>T (hg19) ; chr5:g.126544960C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544960C>T , CM000667.2:g.126544960C>T	GRCh38
NC_000005.9:g.125880652C>T , CM000667.1:g.125880652C>T	GRCh37
NC_000005.8:g.125908551C>T	NCBI36
NG_008600.2:g.55431G>A
NG_008600.3:g.55431G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.*5G>A MANE Select	ENSP00000387123.3:n.*5G>A
ENST00000458249.6:c.*1534G>A	ENSP00000403929.1:n.*1534G>A
ENST00000485852.7:n.372G>A
ENST00000497231.7:n.2052G>A
ENST00000635851.1:c.1563+1364G>A
ENST00000636286.1:n.1390G>A
ENST00000636482.1:n.1159G>A
ENST00000636743.1:c.*5G>A	ENSP00000489725.1:n.*5G>A
ENST00000636808.1:c.*1434G>A	ENSP00000490833.1:n.*1434G>A
ENST00000636872.1:c.1785G>A	ENSP00000490919.1:n.1785G>A
ENST00000636879.1:c.*5G>A	ENSP00000490811.1:n.*5G>A
ENST00000636886.1:c.*5G>A	ENSP00000490371.1:n.*5G>A
ENST00000637206.1:c.*5G>A	ENSP00000489895.1:n.*5G>A
ENST00000637272.1:c.*5G>A	ENSP00000489686.1:n.*5G>A
ENST00000637292.1:c.1081G>A
ENST00000637782.1:c.1565+1364G>A	ENSP00000490024.1:n.1565+1364G>A
ENST00000638008.1:c.*1469G>A	ENSP00000490400.1:n.*1469G>A
ENST00000638010.1:n.1571G>A
ENST00000409134.7:c.*5G>A	ENSP00000387123.3:n.*5G>A
ENST00000447989.6:c.*5G>A	ENSP00000414132.2:n.*5G>A
ENST00000485852.6:n.372G>A
ENST00000497231.6:n.1835G>A
ENST00000553117.5:c.*5G>A	ENSP00000448593.1:n.*5G>A
NM_001182.4:c.*5G>A	NP_001173.2:n.*5G>A
NM_001201377.1:c.*5G>A	NP_001188306.1:n.*5G>A
NM_001202404.1:c.*5G>A	NP_001189333.1:n.*5G>A
XM_011543417.1:c.*5G>A	XP_011541719.1:n.*5G>A
XM_011543417.2:c.*5G>A	XP_011541719.1:n.*5G>A
NM_001182.5:c.*5G>A MANE Select	NP_001173.2:n.*5G>A
NM_001201377.2:c.*5G>A	NP_001188306.1:n.*5G>A
NM_001202404.2:c.*5G>A	NP_001189333.2:n.*5G>A