Canonical Allele Identifier: CA360722795

Gene: ALDH7A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552037T>G , CM000667.2:g.126552037T>G	GRCh38
NC_000005.9:g.125887729T>G , CM000667.1:g.125887729T>G	GRCh37
NC_000005.8:g.125915628T>G	NCBI36
NG_008600.2:g.48354A>C
NG_008600.3:g.48354A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1301A>C MANE Select	ENSP00000387123.3:p.Tyr434Ser
ENST00000458249.6:c.*1210A>C	ENSP00000403929.1:n.*1210A>C
ENST00000497231.7:n.1728A>C
ENST00000503281.6:c.890A>C
ENST00000635851.1:c.1299A>C
ENST00000636062.1:n.1196A>C
ENST00000636225.1:c.*1245A>C	ENSP00000490797.1:n.*1245A>C
ENST00000636286.1:n.1019A>C
ENST00000636482.1:n.788A>C
ENST00000636743.1:c.1181A>C	ENSP00000489725.1:p.Tyr394Ser
ENST00000636808.1:c.*1110A>C	ENSP00000490833.1:n.*1110A>C
ENST00000636872.1:c.1461A>C	ENSP00000490919.1:n.1461A>C
ENST00000636879.1:c.1346A>C	ENSP00000490811.1:p.Tyr449Ser
ENST00000636886.1:c.1100A>C	ENSP00000490371.1:p.Tyr367Ser
ENST00000637206.1:c.1121A>C	ENSP00000489895.1:p.Tyr374Ser
ENST00000637272.1:c.1292A>C	ENSP00000489686.1:p.Tyr431Ser
ENST00000637292.1:c.774-1744A>C
ENST00000637782.1:c.1301A>C	ENSP00000490024.1:p.Tyr434Ser
ENST00000638008.1:c.*1145A>C	ENSP00000490400.1:n.*1145A>C
ENST00000638010.1:n.1247A>C
ENST00000409134.7:c.1301A>C	ENSP00000387123.3:p.Tyr434Ser
ENST00000447989.6:c.1190A>C	ENSP00000414132.2:p.Tyr397Ser
ENST00000476328.1:n.66A>C
ENST00000497231.6:n.1511A>C
ENST00000503281.5:c.890A>C
ENST00000553117.5:c.1109A>C	ENSP00000448593.1:p.Tyr370Ser
NM_001182.4:c.1301A>C	NP_001173.2:p.Tyr434Ser
NM_001201377.1:c.1217A>C	NP_001188306.1:p.Tyr406Ser
NM_001202404.1:c.1190A>C	NP_001189333.1:p.Tyr397Ser
XM_011543417.1:c.896A>C	XP_011541719.1:p.Tyr299Ser
XM_011543417.2:c.896A>C	XP_011541719.1:p.Tyr299Ser
NM_001182.5:c.1301A>C MANE Select	NP_001173.2:p.Tyr434Ser
NM_001201377.2:c.1217A>C	NP_001188306.1:p.Tyr406Ser
NM_001202404.2:c.1109A>C	NP_001189333.2:p.Tyr370Ser