Canonical Allele Identifier: CA360717876

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126545007-G-T
• MyVariant Identifiers: chr5:g.125880699G>T (hg19) ; chr5:g.126545007G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545007G>T , CM000667.2:g.126545007G>T	GRCh38
NC_000005.9:g.125880699G>T , CM000667.1:g.125880699G>T	GRCh37
NC_000005.8:g.125908598G>T	NCBI36
NG_008600.2:g.55384C>A
NG_008600.3:g.55384C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1578C>A MANE Select	ENSP00000387123.3:p.Tyr526Ter
ENST00000458249.6:c.*1487C>A	ENSP00000403929.1:n.*1487C>A
ENST00000485852.7:n.325C>A
ENST00000497231.7:n.2005C>A
ENST00000635851.1:c.1563+1317C>A
ENST00000636286.1:n.1343C>A
ENST00000636482.1:n.1112C>A
ENST00000636743.1:c.1458C>A	ENSP00000489725.1:p.Tyr486Ter
ENST00000636808.1:c.*1387C>A	ENSP00000490833.1:n.*1387C>A
ENST00000636872.1:c.1738C>A	ENSP00000490919.1:n.1738C>A
ENST00000636879.1:c.1623C>A	ENSP00000490811.1:p.Tyr541Ter
ENST00000636886.1:c.1377C>A	ENSP00000490371.1:p.Tyr459Ter
ENST00000637206.1:c.1398C>A	ENSP00000489895.1:p.Tyr466Ter
ENST00000637272.1:c.1569C>A	ENSP00000489686.1:p.Tyr523Ter
ENST00000637292.1:c.1034C>A
ENST00000637782.1:c.1565+1317C>A	ENSP00000490024.1:n.1565+1317C>A
ENST00000638008.1:c.*1422C>A	ENSP00000490400.1:n.*1422C>A
ENST00000638010.1:n.1524C>A
ENST00000409134.7:c.1578C>A	ENSP00000387123.3:p.Tyr526Ter
ENST00000447989.6:c.1467C>A	ENSP00000414132.2:p.Tyr489Ter
ENST00000485852.6:n.325C>A
ENST00000497231.6:n.1788C>A
ENST00000553117.5:c.1386C>A	ENSP00000448593.1:p.Tyr462Ter
NM_001182.4:c.1578C>A	NP_001173.2:p.Tyr526Ter
NM_001201377.1:c.1494C>A	NP_001188306.1:p.Tyr498Ter
NM_001202404.1:c.1467C>A	NP_001189333.1:p.Tyr489Ter
XM_011543417.1:c.1173C>A	XP_011541719.1:p.Tyr391Ter
XM_011543417.2:c.1173C>A	XP_011541719.1:p.Tyr391Ter
NM_001182.5:c.1578C>A MANE Select	NP_001173.2:p.Tyr526Ter
NM_001201377.2:c.1494C>A	NP_001188306.1:p.Tyr498Ter
NM_001202404.2:c.1386C>A	NP_001189333.2:p.Tyr462Ter