Canonical Allele Identifier: CA360717461

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880659A>C (hg19) ; chr5:g.126544967A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544967A>C , CM000667.2:g.126544967A>C	GRCh38
NC_000005.9:g.125880659A>C , CM000667.1:g.125880659A>C	GRCh37
NC_000005.8:g.125908558A>C	NCBI36
NG_008600.2:g.55424T>G
NG_008600.3:g.55424T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1618T>G MANE Select	ENSP00000387123.3:p.Ter540Glu
ENST00000458249.6:c.*1527T>G	ENSP00000403929.1:n.*1527T>G
ENST00000485852.7:n.365T>G
ENST00000497231.7:n.2045T>G
ENST00000635851.1:c.1563+1357T>G
ENST00000636286.1:n.1383T>G
ENST00000636482.1:n.1152T>G
ENST00000636743.1:c.1498T>G	ENSP00000489725.1:p.Ter500Glu
ENST00000636808.1:c.*1427T>G	ENSP00000490833.1:n.*1427T>G
ENST00000636872.1:c.1778T>G	ENSP00000490919.1:n.1778T>G
ENST00000636879.1:c.1663T>G	ENSP00000490811.1:p.Ter555Glu
ENST00000636886.1:c.1417T>G	ENSP00000490371.1:p.Ter473Glu
ENST00000637206.1:c.1438T>G	ENSP00000489895.1:p.Ter480Glu
ENST00000637272.1:c.1609T>G	ENSP00000489686.1:p.Ter537Glu
ENST00000637292.1:c.1074T>G
ENST00000637782.1:c.1565+1357T>G	ENSP00000490024.1:n.1565+1357T>G
ENST00000638008.1:c.*1462T>G	ENSP00000490400.1:n.*1462T>G
ENST00000638010.1:n.1564T>G
ENST00000409134.7:c.1618T>G	ENSP00000387123.3:p.Ter540Glu
ENST00000447989.6:c.1507T>G	ENSP00000414132.2:p.Ter503Glu
ENST00000485852.6:n.365T>G
ENST00000497231.6:n.1828T>G
ENST00000553117.5:c.1426T>G	ENSP00000448593.1:p.Ter476Glu
NM_001182.4:c.1618T>G	NP_001173.2:p.Ter540Glu
NM_001201377.1:c.1534T>G	NP_001188306.1:p.Ter512Glu
NM_001202404.1:c.1507T>G	NP_001189333.1:p.Ter503Glu
XM_011543417.1:c.1213T>G	XP_011541719.1:p.Ter405Glu
XM_011543417.2:c.1213T>G	XP_011541719.1:p.Ter405Glu
NM_001182.5:c.1618T>G MANE Select	NP_001173.2:p.Ter540Glu
NM_001201377.2:c.1534T>G	NP_001188306.1:p.Ter512Glu
NM_001202404.2:c.1426T>G	NP_001189333.2:p.Ter476Glu