Canonical Allele Identifier: CA446280127

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126544992-A-G
• MyVariant Identifiers: chr5:g.125880684A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544992A>G , CM000667.2:g.126544992A>G	GRCh38
NC_000005.9:g.125880684A>G , CM000667.1:g.125880684A>G	GRCh37
NC_000005.8:g.125908583A>G	NCBI36
NG_008600.2:g.55399T>C
NG_008600.3:g.55399T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1593T>C MANE Select	ENSP00000387123.3:p.Pro531=
ENST00000458249.6:c.*1502T>C	ENSP00000403929.1:n.*1502T>C
ENST00000485852.7:n.340T>C
ENST00000497231.7:n.2020T>C
ENST00000635851.1:c.1563+1332T>C
ENST00000636286.1:n.1358T>C
ENST00000636482.1:n.1127T>C
ENST00000636743.1:c.1473T>C	ENSP00000489725.1:p.Pro491=
ENST00000636808.1:c.*1402T>C	ENSP00000490833.1:n.*1402T>C
ENST00000636872.1:c.1753T>C	ENSP00000490919.1:n.1753T>C
ENST00000636879.1:c.1638T>C	ENSP00000490811.1:p.Pro546=
ENST00000636886.1:c.1392T>C	ENSP00000490371.1:p.Pro464=
ENST00000637206.1:c.1413T>C	ENSP00000489895.1:p.Pro471=
ENST00000637272.1:c.1584T>C	ENSP00000489686.1:p.Pro528=
ENST00000637292.1:c.1049T>C
ENST00000637782.1:c.1565+1332T>C	ENSP00000490024.1:n.1565+1332T>C
ENST00000638008.1:c.*1437T>C	ENSP00000490400.1:n.*1437T>C
ENST00000638010.1:n.1539T>C
ENST00000409134.7:c.1593T>C	ENSP00000387123.3:p.Pro531=
ENST00000447989.6:c.1482T>C	ENSP00000414132.2:p.Pro494=
ENST00000485852.6:n.340T>C
ENST00000497231.6:n.1803T>C
ENST00000553117.5:c.1401T>C	ENSP00000448593.1:p.Pro467=
NM_001182.4:c.1593T>C	NP_001173.2:p.Pro531=
NM_001201377.1:c.1509T>C	NP_001188306.1:p.Pro503=
NM_001202404.1:c.1482T>C	NP_001189333.1:p.Pro494=
XM_011543417.1:c.1188T>C	XP_011541719.1:p.Pro396=
XM_011543417.2:c.1188T>C	XP_011541719.1:p.Pro396=
NM_001182.5:c.1593T>C MANE Select	NP_001173.2:p.Pro531=
NM_001201377.2:c.1509T>C	NP_001188306.1:p.Pro503=
NM_001202404.2:c.1401T>C	NP_001189333.2:p.Pro467=