Canonical Allele Identifier: CA360717497

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126544970-G-A
• MyVariant Identifiers: chr5:g.125880662G>A (hg19) ; chr5:g.126544970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544970G>A , CM000667.2:g.126544970G>A	GRCh38
NC_000005.9:g.125880662G>A , CM000667.1:g.125880662G>A	GRCh37
NC_000005.8:g.125908561G>A	NCBI36
NG_008600.2:g.55421C>T
NG_008600.3:g.55421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1615C>T MANE Select	ENSP00000387123.3:p.Gln539Ter
ENST00000458249.6:c.*1524C>T	ENSP00000403929.1:n.*1524C>T
ENST00000485852.7:n.362C>T
ENST00000497231.7:n.2042C>T
ENST00000635851.1:c.1563+1354C>T
ENST00000636286.1:n.1380C>T
ENST00000636482.1:n.1149C>T
ENST00000636743.1:c.1495C>T	ENSP00000489725.1:p.Gln499Ter
ENST00000636808.1:c.*1424C>T	ENSP00000490833.1:n.*1424C>T
ENST00000636872.1:c.1775C>T	ENSP00000490919.1:n.1775C>T
ENST00000636879.1:c.1660C>T	ENSP00000490811.1:p.Gln554Ter
ENST00000636886.1:c.1414C>T	ENSP00000490371.1:p.Gln472Ter
ENST00000637206.1:c.1435C>T	ENSP00000489895.1:p.Gln479Ter
ENST00000637272.1:c.1606C>T	ENSP00000489686.1:p.Gln536Ter
ENST00000637292.1:c.1071C>T
ENST00000637782.1:c.1565+1354C>T	ENSP00000490024.1:n.1565+1354C>T
ENST00000638008.1:c.*1459C>T	ENSP00000490400.1:n.*1459C>T
ENST00000638010.1:n.1561C>T
ENST00000409134.7:c.1615C>T	ENSP00000387123.3:p.Gln539Ter
ENST00000447989.6:c.1504C>T	ENSP00000414132.2:p.Gln502Ter
ENST00000485852.6:n.362C>T
ENST00000497231.6:n.1825C>T
ENST00000553117.5:c.1423C>T	ENSP00000448593.1:p.Gln475Ter
NM_001182.4:c.1615C>T	NP_001173.2:p.Gln539Ter
NM_001201377.1:c.1531C>T	NP_001188306.1:p.Gln511Ter
NM_001202404.1:c.1504C>T	NP_001189333.1:p.Gln502Ter
XM_011543417.1:c.1210C>T	XP_011541719.1:p.Gln404Ter
XM_011543417.2:c.1210C>T	XP_011541719.1:p.Gln404Ter
NM_001182.5:c.1615C>T MANE Select	NP_001173.2:p.Gln539Ter
NM_001201377.2:c.1531C>T	NP_001188306.1:p.Gln511Ter
NM_001202404.2:c.1423C>T	NP_001189333.2:p.Gln475Ter