Canonical Allele Identifier: CA2697546439

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 2730015
• ClinVar RCV Id: RCV003518618

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126550021A>G , CM000667.2:g.126550021A>G	GRCh38
NC_000005.9:g.125885713A>G , CM000667.1:g.125885713A>G	GRCh37
NC_000005.8:g.125913612A>G	NCBI36
NG_008600.2:g.50370T>C
NG_008600.3:g.50370T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1416-19T>C MANE Select	ENSP00000387123.3:n.1416-19T>C
ENST00000458249.6:c.*1325-19T>C	ENSP00000403929.1:n.*1325-19T>C
ENST00000485852.7:n.144T>C
ENST00000497231.7:n.1843-19T>C
ENST00000635851.1:c.1414-19T>C
ENST00000636062.1:n.1311-19T>C
ENST00000636225.1:c.*1360-19T>C	ENSP00000490797.1:n.*1360-19T>C
ENST00000636286.1:n.1181-19T>C
ENST00000636482.1:n.950-19T>C
ENST00000636743.1:c.1296-19T>C	ENSP00000489725.1:n.1296-19T>C
ENST00000636808.1:c.*1225-19T>C	ENSP00000490833.1:n.*1225-19T>C
ENST00000636872.1:c.1576-19T>C	ENSP00000490919.1:n.1576-19T>C
ENST00000636879.1:c.1461-19T>C	ENSP00000490811.1:n.1461-19T>C
ENST00000636886.1:c.1215-19T>C	ENSP00000490371.1:n.1215-19T>C
ENST00000637206.1:c.1236-19T>C	ENSP00000489895.1:n.1236-19T>C
ENST00000637272.1:c.1407-19T>C	ENSP00000489686.1:n.1407-19T>C
ENST00000637292.1:c.872-19T>C
ENST00000637782.1:c.1416-19T>C	ENSP00000490024.1:n.1416-19T>C
ENST00000638008.1:c.*1260-19T>C	ENSP00000490400.1:n.*1260-19T>C
ENST00000638010.1:n.1362-19T>C
ENST00000409134.7:c.1416-19T>C	ENSP00000387123.3:n.1416-19T>C
ENST00000447989.6:c.1305-19T>C	ENSP00000414132.2:n.1305-19T>C
ENST00000476328.1:n.355T>C
ENST00000485852.6:n.144T>C
ENST00000497231.6:n.1626-19T>C
ENST00000553117.5:c.1224-19T>C	ENSP00000448593.1:n.1224-19T>C
NM_001182.4:c.1416-19T>C	NP_001173.2:n.1416-19T>C
NM_001201377.1:c.1332-19T>C	NP_001188306.1:n.1332-19T>C
NM_001202404.1:c.1305-19T>C	NP_001189333.1:n.1305-19T>C
XM_011543417.1:c.1011-19T>C	XP_011541719.1:n.1011-19T>C
XM_011543417.2:c.1011-19T>C	XP_011541719.1:n.1011-19T>C
NM_001182.5:c.1416-19T>C MANE Select	NP_001173.2:n.1416-19T>C
NM_001201377.2:c.1332-19T>C	NP_001188306.1:n.1332-19T>C
NM_001202404.2:c.1224-19T>C	NP_001189333.2:n.1224-19T>C