Canonical Allele Identifier: CA446280111

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126544983-T-C
• MyVariant Identifiers: chr5:g.125880675T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544983T>C , CM000667.2:g.126544983T>C	GRCh38
NC_000005.9:g.125880675T>C , CM000667.1:g.125880675T>C	GRCh37
NC_000005.8:g.125908574T>C	NCBI36
NG_008600.2:g.55408A>G
NG_008600.3:g.55408A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1602A>G MANE Select	ENSP00000387123.3:p.Gln534=
ENST00000458249.6:c.*1511A>G	ENSP00000403929.1:n.*1511A>G
ENST00000485852.7:n.349A>G
ENST00000497231.7:n.2029A>G
ENST00000635851.1:c.1563+1341A>G
ENST00000636286.1:n.1367A>G
ENST00000636482.1:n.1136A>G
ENST00000636743.1:c.1482A>G	ENSP00000489725.1:p.Gln494=
ENST00000636808.1:c.*1411A>G	ENSP00000490833.1:n.*1411A>G
ENST00000636872.1:c.1762A>G	ENSP00000490919.1:n.1762A>G
ENST00000636879.1:c.1647A>G	ENSP00000490811.1:p.Gln549=
ENST00000636886.1:c.1401A>G	ENSP00000490371.1:p.Gln467=
ENST00000637206.1:c.1422A>G	ENSP00000489895.1:p.Gln474=
ENST00000637272.1:c.1593A>G	ENSP00000489686.1:p.Gln531=
ENST00000637292.1:c.1058A>G
ENST00000637782.1:c.1565+1341A>G	ENSP00000490024.1:n.1565+1341A>G
ENST00000638008.1:c.*1446A>G	ENSP00000490400.1:n.*1446A>G
ENST00000638010.1:n.1548A>G
ENST00000409134.7:c.1602A>G	ENSP00000387123.3:p.Gln534=
ENST00000447989.6:c.1491A>G	ENSP00000414132.2:p.Gln497=
ENST00000485852.6:n.349A>G
ENST00000497231.6:n.1812A>G
ENST00000553117.5:c.1410A>G	ENSP00000448593.1:p.Gln470=
NM_001182.4:c.1602A>G	NP_001173.2:p.Gln534=
NM_001201377.1:c.1518A>G	NP_001188306.1:p.Gln506=
NM_001202404.1:c.1491A>G	NP_001189333.1:p.Gln497=
XM_011543417.1:c.1197A>G	XP_011541719.1:p.Gln399=
XM_011543417.2:c.1197A>G	XP_011541719.1:p.Gln399=
NM_001182.5:c.1602A>G MANE Select	NP_001173.2:p.Gln534=
NM_001201377.2:c.1518A>G	NP_001188306.1:p.Gln506=
NM_001202404.2:c.1410A>G	NP_001189333.2:p.Gln470=