Canonical Allele Identifier: CA360717922

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126545012-T-A
• MyVariant Identifiers: chr5:g.125880704T>A (hg19) ; chr5:g.126545012T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545012T>A , CM000667.2:g.126545012T>A	GRCh38
NC_000005.9:g.125880704T>A , CM000667.1:g.125880704T>A	GRCh37
NC_000005.8:g.125908603T>A	NCBI36
NG_008600.2:g.55379A>T
NG_008600.3:g.55379A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1573A>T MANE Select	ENSP00000387123.3:p.Asn525Tyr
ENST00000458249.6:c.*1482A>T	ENSP00000403929.1:n.*1482A>T
ENST00000485852.7:n.320A>T
ENST00000497231.7:n.2000A>T
ENST00000635851.1:c.1563+1312A>T
ENST00000636286.1:n.1338A>T
ENST00000636482.1:n.1107A>T
ENST00000636743.1:c.1453A>T	ENSP00000489725.1:p.Asn485Tyr
ENST00000636808.1:c.*1382A>T	ENSP00000490833.1:n.*1382A>T
ENST00000636872.1:c.1733A>T	ENSP00000490919.1:n.1733A>T
ENST00000636879.1:c.1618A>T	ENSP00000490811.1:p.Asn540Tyr
ENST00000636886.1:c.1372A>T	ENSP00000490371.1:p.Asn458Tyr
ENST00000637206.1:c.1393A>T	ENSP00000489895.1:p.Asn465Tyr
ENST00000637272.1:c.1564A>T	ENSP00000489686.1:p.Asn522Tyr
ENST00000637292.1:c.1029A>T
ENST00000637782.1:c.1565+1312A>T	ENSP00000490024.1:n.1565+1312A>T
ENST00000638008.1:c.*1417A>T	ENSP00000490400.1:n.*1417A>T
ENST00000638010.1:n.1519A>T
ENST00000409134.7:c.1573A>T	ENSP00000387123.3:p.Asn525Tyr
ENST00000447989.6:c.1462A>T	ENSP00000414132.2:p.Asn488Tyr
ENST00000485852.6:n.320A>T
ENST00000497231.6:n.1783A>T
ENST00000553117.5:c.1381A>T	ENSP00000448593.1:p.Asn461Tyr
NM_001182.4:c.1573A>T	NP_001173.2:p.Asn525Tyr
NM_001201377.1:c.1489A>T	NP_001188306.1:p.Asn497Tyr
NM_001202404.1:c.1462A>T	NP_001189333.1:p.Asn488Tyr
XM_011543417.1:c.1168A>T	XP_011541719.1:p.Asn390Tyr
XM_011543417.2:c.1168A>T	XP_011541719.1:p.Asn390Tyr
NM_001182.5:c.1573A>T MANE Select	NP_001173.2:p.Asn525Tyr
NM_001201377.2:c.1489A>T	NP_001188306.1:p.Asn497Tyr
NM_001202404.2:c.1381A>T	NP_001189333.2:p.Asn461Tyr