Canonical Allele Identifier: CA3389828

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs773935427
• ExAC: 5:125928452 G / C
• gnomAD v2: 5-125928452-G-C
• gnomAD v4: 5-126592760-G-C
• MyVariant Identifiers: chr5:g.125928452G>C (hg19) ; chr5:g.126592760G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126592760G>C , CM000667.2:g.126592760G>C	GRCh38
NC_000005.9:g.125928452G>C , CM000667.1:g.125928452G>C	GRCh37
NC_000005.8:g.125956351G>C	NCBI36
NG_008600.2:g.7631C>G
NG_008600.3:g.7631C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.247-31C>G MANE Select	ENSP00000387123.3:n.247-31C>G
ENST00000412186.2:c.247-31C>G	ENSP00000414536.2:n.247-31C>G
ENST00000413020.6:c.247-31C>G	ENSP00000487936.1:n.247-31C>G
ENST00000458249.6:c.*156-31C>G	ENSP00000403929.1:n.*156-31C>G
ENST00000479989.6:n.430-31C>G
ENST00000503281.6:c.106+2247C>G
ENST00000509270.2:c.246+591C>G	ENSP00000449318.2:n.246+591C>G
ENST00000509459.6:c.65+2247C>G
ENST00000511266.6:n.969-31C>G
ENST00000635851.1:c.245-31C>G
ENST00000635858.1:n.86-31C>G
ENST00000635933.1:n.276-31C>G
ENST00000636062.1:n.142-31C>G
ENST00000636190.1:n.126-31C>G
ENST00000636225.1:c.*56-31C>G	ENSP00000490797.1:n.*56-31C>G
ENST00000636743.1:c.192+2247C>G	ENSP00000489725.1:n.192+2247C>G
ENST00000636808.1:c.*56-31C>G	ENSP00000490833.1:n.*56-31C>G
ENST00000636872.1:c.407-31C>G	ENSP00000490919.1:n.407-31C>G
ENST00000636879.1:c.247-31C>G	ENSP00000490811.1:n.247-31C>G
ENST00000636886.1:c.192+2247C>G	ENSP00000490371.1:n.192+2247C>G
ENST00000637206.1:c.247-31C>G	ENSP00000489895.1:n.247-31C>G
ENST00000637272.1:c.247-31C>G	ENSP00000489686.1:n.247-31C>G
ENST00000637782.1:c.247-31C>G	ENSP00000490024.1:n.247-31C>G
ENST00000637964.1:c.193-31C>G	ENSP00000490291.1:n.193-31C>G
ENST00000638008.1:c.*56-31C>G	ENSP00000490400.1:n.*56-31C>G
ENST00000409134.7:c.247-31C>G	ENSP00000387123.3:n.247-31C>G
ENST00000412186.1:c.*56-31C>G	ENSP00000414536.1:n.*56-31C>G
ENST00000413020.5:c.247-31C>G	ENSP00000487936.1:n.247-31C>G
ENST00000447989.6:c.328-31C>G	ENSP00000414132.2:n.328-31C>G
ENST00000458249.5:c.407-31C>G	ENSP00000403929.1:n.407-31C>G
ENST00000479989.5:n.430-31C>G
ENST00000503281.5:c.106+2247C>G
ENST00000509270.1:c.192+2247C>G	ENSP00000449318.1:n.192+2247C>G
ENST00000509459.5:c.65+2247C>G
ENST00000510111.6:c.241-31C>G	ENSP00000447388.1:n.241-31C>G
ENST00000511266.5:n.202-31C>G
ENST00000553117.5:c.247-31C>G	ENSP00000448593.1:n.247-31C>G
NM_001182.4:c.247-31C>G	NP_001173.2:n.247-31C>G
NM_001201377.1:c.163-31C>G	NP_001188306.1:n.163-31C>G
NM_001202404.1:c.328-31C>G	NP_001189333.1:n.328-31C>G
XM_011543417.1:c.-159-31C>G	XP_011541719.1:n.-159-31C>G
XM_011543417.2:c.-159-31C>G	XP_011541719.1:n.-159-31C>G
NM_001182.5:c.247-31C>G MANE Select	NP_001173.2:n.247-31C>G
NM_001201377.2:c.163-31C>G	NP_001188306.1:n.163-31C>G
NM_001202404.2:c.247-31C>G	NP_001189333.2:n.247-31C>G