Canonical Allele Identifier: CA360717815

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126545000-C-G
• MyVariant Identifiers: chr5:g.125880692C>G (hg19) ; chr5:g.126545000C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545000C>G , CM000667.2:g.126545000C>G	GRCh38
NC_000005.9:g.125880692C>G , CM000667.1:g.125880692C>G	GRCh37
NC_000005.8:g.125908591C>G	NCBI36
NG_008600.2:g.55391G>C
NG_008600.3:g.55391G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1585G>C MANE Select	ENSP00000387123.3:p.Asp529His
ENST00000458249.6:c.*1494G>C	ENSP00000403929.1:n.*1494G>C
ENST00000485852.7:n.332G>C
ENST00000497231.7:n.2012G>C
ENST00000635851.1:c.1563+1324G>C
ENST00000636286.1:n.1350G>C
ENST00000636482.1:n.1119G>C
ENST00000636743.1:c.1465G>C	ENSP00000489725.1:p.Asp489His
ENST00000636808.1:c.*1394G>C	ENSP00000490833.1:n.*1394G>C
ENST00000636872.1:c.1745G>C	ENSP00000490919.1:n.1745G>C
ENST00000636879.1:c.1630G>C	ENSP00000490811.1:p.Asp544His
ENST00000636886.1:c.1384G>C	ENSP00000490371.1:p.Asp462His
ENST00000637206.1:c.1405G>C	ENSP00000489895.1:p.Asp469His
ENST00000637272.1:c.1576G>C	ENSP00000489686.1:p.Asp526His
ENST00000637292.1:c.1041G>C
ENST00000637782.1:c.1565+1324G>C	ENSP00000490024.1:n.1565+1324G>C
ENST00000638008.1:c.*1429G>C	ENSP00000490400.1:n.*1429G>C
ENST00000638010.1:n.1531G>C
ENST00000409134.7:c.1585G>C	ENSP00000387123.3:p.Asp529His
ENST00000447989.6:c.1474G>C	ENSP00000414132.2:p.Asp492His
ENST00000485852.6:n.332G>C
ENST00000497231.6:n.1795G>C
ENST00000553117.5:c.1393G>C	ENSP00000448593.1:p.Asp465His
NM_001182.4:c.1585G>C	NP_001173.2:p.Asp529His
NM_001201377.1:c.1501G>C	NP_001188306.1:p.Asp501His
NM_001202404.1:c.1474G>C	NP_001189333.1:p.Asp492His
XM_011543417.1:c.1180G>C	XP_011541719.1:p.Asp394His
XM_011543417.2:c.1180G>C	XP_011541719.1:p.Asp394His
NM_001182.5:c.1585G>C MANE Select	NP_001173.2:p.Asp529His
NM_001201377.2:c.1501G>C	NP_001188306.1:p.Asp501His
NM_001202404.2:c.1393G>C	NP_001189333.2:p.Asp465His