Canonical Allele Identifier: CA360717963

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126545017-G-A
• MyVariant Identifiers: chr5:g.125880709G>A (hg19) ; chr5:g.126545017G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545017G>A , CM000667.2:g.126545017G>A	GRCh38
NC_000005.9:g.125880709G>A , CM000667.1:g.125880709G>A	GRCh37
NC_000005.8:g.125908608G>A	NCBI36
NG_008600.2:g.55374C>T
NG_008600.3:g.55374C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1568C>T MANE Select	ENSP00000387123.3:p.Thr523Ile
ENST00000458249.6:c.*1477C>T	ENSP00000403929.1:n.*1477C>T
ENST00000485852.7:n.315C>T
ENST00000497231.7:n.1995C>T
ENST00000635851.1:c.1563+1307C>T
ENST00000636286.1:n.1333C>T
ENST00000636482.1:n.1102C>T
ENST00000636743.1:c.1448C>T	ENSP00000489725.1:p.Thr483Ile
ENST00000636808.1:c.*1377C>T	ENSP00000490833.1:n.*1377C>T
ENST00000636872.1:c.1728C>T	ENSP00000490919.1:n.1728C>T
ENST00000636879.1:c.1613C>T	ENSP00000490811.1:p.Thr538Ile
ENST00000636886.1:c.1367C>T	ENSP00000490371.1:p.Thr456Ile
ENST00000637206.1:c.1388C>T	ENSP00000489895.1:p.Thr463Ile
ENST00000637272.1:c.1559C>T	ENSP00000489686.1:p.Thr520Ile
ENST00000637292.1:c.1024C>T
ENST00000637782.1:c.1565+1307C>T	ENSP00000490024.1:n.1565+1307C>T
ENST00000638008.1:c.*1412C>T	ENSP00000490400.1:n.*1412C>T
ENST00000638010.1:n.1514C>T
ENST00000409134.7:c.1568C>T	ENSP00000387123.3:p.Thr523Ile
ENST00000447989.6:c.1457C>T	ENSP00000414132.2:p.Thr486Ile
ENST00000485852.6:n.315C>T
ENST00000497231.6:n.1778C>T
ENST00000553117.5:c.1376C>T	ENSP00000448593.1:p.Thr459Ile
NM_001182.4:c.1568C>T	NP_001173.2:p.Thr523Ile
NM_001201377.1:c.1484C>T	NP_001188306.1:p.Thr495Ile
NM_001202404.1:c.1457C>T	NP_001189333.1:p.Thr486Ile
XM_011543417.1:c.1163C>T	XP_011541719.1:p.Thr388Ile
XM_011543417.2:c.1163C>T	XP_011541719.1:p.Thr388Ile
NM_001182.5:c.1568C>T MANE Select	NP_001173.2:p.Thr523Ile
NM_001201377.2:c.1484C>T	NP_001188306.1:p.Thr495Ile
NM_001202404.2:c.1376C>T	NP_001189333.2:p.Thr459Ile