Canonical Allele Identifier: CA3389334

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs371971136
• ExAC: 5:125880615 G / C
• gnomAD v2: 5-125880615-G-C
• gnomAD v4: 5-126544923-G-C
• MyVariant Identifiers: chr5:g.125880615G>C (hg19) ; chr5:g.126544923G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544923G>C , CM000667.2:g.126544923G>C	GRCh38
NC_000005.9:g.125880615G>C , CM000667.1:g.125880615G>C	GRCh37
NC_000005.8:g.125908514G>C	NCBI36
NG_008600.2:g.55468C>G
NG_008600.3:g.55468C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.*42C>G MANE Select	ENSP00000387123.3:n.*42C>G
ENST00000458249.6:c.*1571C>G	ENSP00000403929.1:n.*1571C>G
ENST00000485852.7:n.409C>G
ENST00000497231.7:n.2089C>G
ENST00000635851.1:c.1563+1401C>G
ENST00000636286.1:n.1427C>G
ENST00000636482.1:n.1196C>G
ENST00000636743.1:c.*42C>G	ENSP00000489725.1:n.*42C>G
ENST00000636808.1:c.*1471C>G	ENSP00000490833.1:n.*1471C>G
ENST00000636872.1:c.1822C>G	ENSP00000490919.1:n.1822C>G
ENST00000636879.1:c.*42C>G	ENSP00000490811.1:n.*42C>G
ENST00000636886.1:c.*42C>G	ENSP00000490371.1:n.*42C>G
ENST00000637206.1:c.*42C>G	ENSP00000489895.1:n.*42C>G
ENST00000637272.1:c.*42C>G	ENSP00000489686.1:n.*42C>G
ENST00000637292.1:c.1118C>G
ENST00000637782.1:c.1565+1401C>G	ENSP00000490024.1:n.1565+1401C>G
ENST00000638008.1:c.*1506C>G	ENSP00000490400.1:n.*1506C>G
ENST00000638010.1:n.1608C>G
ENST00000409134.7:c.*42C>G	ENSP00000387123.3:n.*42C>G
ENST00000447989.6:c.*42C>G	ENSP00000414132.2:n.*42C>G
ENST00000485852.6:n.409C>G
ENST00000497231.6:n.1872C>G
ENST00000553117.5:c.*42C>G	ENSP00000448593.1:n.*42C>G
NM_001182.4:c.*42C>G	NP_001173.2:n.*42C>G
NM_001201377.1:c.*42C>G	NP_001188306.1:n.*42C>G
NM_001202404.1:c.*42C>G	NP_001189333.1:n.*42C>G
XM_011543417.1:c.*42C>G	XP_011541719.1:n.*42C>G
XM_011543417.2:c.*42C>G	XP_011541719.1:n.*42C>G
NM_001182.5:c.*42C>G MANE Select	NP_001173.2:n.*42C>G
NM_001201377.2:c.*42C>G	NP_001188306.1:n.*42C>G
NM_001202404.2:c.*42C>G	NP_001189333.2:n.*42C>G