Canonical Allele Identifier: CA360730995

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912787C>A (hg19) ; chr5:g.126577095C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577095C>A , CM000667.2:g.126577095C>A	GRCh38
NC_000005.9:g.125912787C>A , CM000667.1:g.125912787C>A	GRCh37
NC_000005.8:g.125940686C>A	NCBI36
NG_008600.2:g.23296G>T
NG_008600.3:g.23296G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.634G>T MANE Select	ENSP00000387123.3:p.Gly212Ter
ENST00000412186.2:c.510G>T	ENSP00000414536.2:n.510G>T
ENST00000413020.6:c.634G>T	ENSP00000487936.1:p.Gly212Ter
ENST00000458249.6:c.*543G>T	ENSP00000403929.1:n.*543G>T
ENST00000503281.6:c.223G>T
ENST00000509270.2:c.568G>T	ENSP00000449318.2:p.Gly190Ter
ENST00000509459.6:c.182G>T
ENST00000511266.6:n.1356G>T
ENST00000635851.1:c.632G>T
ENST00000636062.1:n.529G>T
ENST00000636225.1:c.*443G>T	ENSP00000490797.1:n.*443G>T
ENST00000636286.1:n.352G>T
ENST00000636743.1:c.514G>T	ENSP00000489725.1:p.Gly172Ter
ENST00000636808.1:c.*443G>T	ENSP00000490833.1:n.*443G>T
ENST00000636872.1:c.794G>T	ENSP00000490919.1:n.794G>T
ENST00000636879.1:c.679G>T	ENSP00000490811.1:p.Gly227Ter
ENST00000636886.1:c.433G>T	ENSP00000490371.1:p.Gly145Ter
ENST00000637206.1:c.634G>T	ENSP00000489895.1:p.Gly212Ter
ENST00000637272.1:c.634G>T	ENSP00000489686.1:p.Gly212Ter
ENST00000637292.1:c.287G>T
ENST00000637782.1:c.634G>T	ENSP00000490024.1:p.Gly212Ter
ENST00000637964.1:c.580G>T	ENSP00000490291.1:p.Gly194Ter
ENST00000638008.1:c.*576G>T	ENSP00000490400.1:n.*576G>T
ENST00000409134.7:c.634G>T	ENSP00000387123.3:p.Gly212Ter
ENST00000413020.5:c.634G>T	ENSP00000487936.1:p.Gly212Ter
ENST00000433026.5:n.161G>T
ENST00000447989.6:c.715G>T	ENSP00000414132.2:p.Gly239Ter
ENST00000458249.5:c.794G>T	ENSP00000403929.1:n.794G>T
ENST00000503281.5:c.223G>T
ENST00000509459.5:c.182G>T
ENST00000510111.6:c.547G>T	ENSP00000447388.1:p.Gly183Ter
ENST00000511266.5:n.465G>T
ENST00000553117.5:c.634G>T	ENSP00000448593.1:p.Gly212Ter
NM_001182.4:c.634G>T	NP_001173.2:p.Gly212Ter
NM_001201377.1:c.550G>T	NP_001188306.1:p.Gly184Ter
NM_001202404.1:c.715G>T	NP_001189333.1:p.Gly239Ter
XM_011543417.1:c.229G>T	XP_011541719.1:p.Gly77Ter
XM_011543417.2:c.229G>T	XP_011541719.1:p.Gly77Ter
NM_001182.5:c.634G>T MANE Select	NP_001173.2:p.Gly212Ter
NM_001201377.2:c.550G>T	NP_001188306.1:p.Gly184Ter
NM_001202404.2:c.634G>T	NP_001189333.2:p.Gly212Ter