Canonical Allele Identifier: CA360733027

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 2837805
• ClinVar RCV Id: RCV003631940
• gnomAD v4: 5-126592662-A-C
• MyVariant Identifiers: chr5:g.125928354A>C (hg19) ; chr5:g.126592662A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126592662A>C , CM000667.2:g.126592662A>C	GRCh38
NC_000005.9:g.125928354A>C , CM000667.1:g.125928354A>C	GRCh37
NC_000005.8:g.125956253A>C	NCBI36
NG_008600.2:g.7729T>G
NG_008600.3:g.7729T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.312+2T>G MANE Select	ENSP00000387123.3:n.312+2T>G
ENST00000412186.2:c.312+2T>G	ENSP00000414536.2:n.312+2T>G
ENST00000413020.6:c.312+2T>G	ENSP00000487936.1:n.312+2T>G
ENST00000458249.6:c.*221+2T>G	ENSP00000403929.1:n.*221+2T>G
ENST00000479989.6:n.495+2T>G
ENST00000503281.6:c.106+2345T>G
ENST00000509270.2:c.246+689T>G	ENSP00000449318.2:n.246+689T>G
ENST00000509459.6:c.65+2345T>G
ENST00000511266.6:n.1034+2T>G
ENST00000635851.1:c.310+2T>G
ENST00000635858.1:n.153T>G
ENST00000635933.1:n.341+2T>G
ENST00000636062.1:n.207+2T>G
ENST00000636190.1:n.191+2T>G
ENST00000636225.1:c.*121+2T>G	ENSP00000490797.1:n.*121+2T>G
ENST00000636743.1:c.192+2345T>G	ENSP00000489725.1:n.192+2345T>G
ENST00000636808.1:c.*121+2T>G	ENSP00000490833.1:n.*121+2T>G
ENST00000636872.1:c.472+2T>G	ENSP00000490919.1:n.472+2T>G
ENST00000636879.1:c.312+2T>G	ENSP00000490811.1:n.312+2T>G
ENST00000636886.1:c.192+2345T>G	ENSP00000490371.1:n.192+2345T>G
ENST00000637206.1:c.312+2T>G	ENSP00000489895.1:n.312+2T>G
ENST00000637272.1:c.312+2T>G	ENSP00000489686.1:n.312+2T>G
ENST00000637782.1:c.312+2T>G	ENSP00000490024.1:n.312+2T>G
ENST00000637964.1:c.258+2T>G	ENSP00000490291.1:n.258+2T>G
ENST00000638008.1:c.*121+2T>G	ENSP00000490400.1:n.*121+2T>G
ENST00000409134.7:c.312+2T>G	ENSP00000387123.3:n.312+2T>G
ENST00000412186.1:c.*121+2T>G	ENSP00000414536.1:n.*121+2T>G
ENST00000413020.5:c.312+2T>G	ENSP00000487936.1:n.312+2T>G
ENST00000447989.6:c.393+2T>G	ENSP00000414132.2:n.393+2T>G
ENST00000458249.5:c.472+2T>G	ENSP00000403929.1:n.472+2T>G
ENST00000479989.5:n.495+2T>G
ENST00000503281.5:c.106+2345T>G
ENST00000509270.1:c.192+2345T>G	ENSP00000449318.1:n.192+2345T>G
ENST00000509459.5:c.65+2345T>G
ENST00000510111.6:c.306+2T>G	ENSP00000447388.1:n.306+2T>G
ENST00000511266.5:n.267+2T>G
ENST00000553117.5:c.312+2T>G	ENSP00000448593.1:n.312+2T>G
NM_001182.4:c.312+2T>G	NP_001173.2:n.312+2T>G
NM_001201377.1:c.228+2T>G	NP_001188306.1:n.228+2T>G
NM_001202404.1:c.393+2T>G	NP_001189333.1:n.393+2T>G
XM_011543417.1:c.-94+2T>G	XP_011541719.1:n.-94+2T>G
XM_011543417.2:c.-94+2T>G	XP_011541719.1:n.-94+2T>G
NM_001182.5:c.312+2T>G MANE Select	NP_001173.2:n.312+2T>G
NM_001201377.2:c.228+2T>G	NP_001188306.1:n.228+2T>G
NM_001202404.2:c.312+2T>G	NP_001189333.2:n.312+2T>G