Canonical Allele Identifier: CA3389398

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 280045
• ClinVar RCV Id: RCV000408272 ; RCV000624841 ; RCV001203133
• dbSNP Id: rs368820286
• ExAC: 5:125885616 C / T
• gnomAD v2: 5-125885616-C-T
• gnomAD v3: 5-126549924-C-T
• gnomAD v4: 5-126549924-C-T
• MyVariant Identifiers: chr5:g.125885616C>T (hg19) ; chr5:g.126549924C>T (hg38)
• PubMed: PMID:8913181 ; PMID:16159904 ; PMID:16491085 ; PMID:17068770 ; PMID:17088338 ; PMID:18762976 ; PMID:19142996 ; PMID:20554659 ; PMID:23350806

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126549924C>T , CM000667.2:g.126549924C>T	GRCh38
NC_000005.9:g.125885616C>T , CM000667.1:g.125885616C>T	GRCh37
NC_000005.8:g.125913515C>T	NCBI36
NG_008600.2:g.50467G>A
NG_008600.3:g.50467G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1489+5G>A MANE Select	ENSP00000387123.3:n.1489+5G>A
ENST00000458249.6:c.*1398+5G>A	ENSP00000403929.1:n.*1398+5G>A
ENST00000485852.7:n.236+5G>A
ENST00000497231.7:n.1916+5G>A
ENST00000635851.1:c.1487+5G>A
ENST00000636062.1:n.1389G>A
ENST00000636225.1:c.*1433+5G>A	ENSP00000490797.1:n.*1433+5G>A
ENST00000636286.1:n.1254+5G>A
ENST00000636482.1:n.1023+5G>A
ENST00000636743.1:c.1369+5G>A	ENSP00000489725.1:n.1369+5G>A
ENST00000636808.1:c.*1298+5G>A	ENSP00000490833.1:n.*1298+5G>A
ENST00000636872.1:c.1649+5G>A	ENSP00000490919.1:n.1649+5G>A
ENST00000636879.1:c.1534+5G>A	ENSP00000490811.1:n.1534+5G>A
ENST00000636886.1:c.1288+5G>A	ENSP00000490371.1:n.1288+5G>A
ENST00000637206.1:c.1309+5G>A	ENSP00000489895.1:n.1309+5G>A
ENST00000637272.1:c.1480+5G>A	ENSP00000489686.1:n.1480+5G>A
ENST00000637292.1:c.945+5G>A
ENST00000637782.1:c.1489+5G>A	ENSP00000490024.1:n.1489+5G>A
ENST00000638008.1:c.*1333+5G>A	ENSP00000490400.1:n.*1333+5G>A
ENST00000638010.1:n.1435+5G>A
ENST00000409134.7:c.1489+5G>A	ENSP00000387123.3:n.1489+5G>A
ENST00000447989.6:c.1378+5G>A	ENSP00000414132.2:n.1378+5G>A
ENST00000476328.1:n.452G>A
ENST00000485852.6:n.236+5G>A
ENST00000497231.6:n.1699+5G>A
ENST00000553117.5:c.1297+5G>A	ENSP00000448593.1:n.1297+5G>A
NM_001182.4:c.1489+5G>A	NP_001173.2:n.1489+5G>A
NM_001201377.1:c.1405+5G>A	NP_001188306.1:n.1405+5G>A
NM_001202404.1:c.1378+5G>A	NP_001189333.1:n.1378+5G>A
XM_011543417.1:c.1084+5G>A	XP_011541719.1:n.1084+5G>A
XM_011543417.2:c.1084+5G>A	XP_011541719.1:n.1084+5G>A
NM_001182.5:c.1489+5G>A MANE Select	NP_001173.2:n.1489+5G>A
NM_001201377.2:c.1405+5G>A	NP_001188306.1:n.1405+5G>A
NM_001202404.2:c.1297+5G>A	NP_001189333.2:n.1297+5G>A