Canonical Allele Identifier: CA360733046

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125928358C>G (hg19) ; chr5:g.126592666C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126592666C>G , CM000667.2:g.126592666C>G	GRCh38
NC_000005.9:g.125928358C>G , CM000667.1:g.125928358C>G	GRCh37
NC_000005.8:g.125956257C>G	NCBI36
NG_008600.2:g.7725G>C
NG_008600.3:g.7725G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.310G>C MANE Select	ENSP00000387123.3:p.Asp104His
ENST00000412186.2:c.310G>C	ENSP00000414536.2:p.Asp104His
ENST00000413020.6:c.310G>C	ENSP00000487936.1:p.Asp104His
ENST00000458249.6:c.*219G>C	ENSP00000403929.1:n.*219G>C
ENST00000479989.6:n.493G>C
ENST00000503281.6:c.106+2341G>C
ENST00000509270.2:c.246+685G>C	ENSP00000449318.2:n.246+685G>C
ENST00000509459.6:c.65+2341G>C
ENST00000511266.6:n.1032G>C
ENST00000635851.1:c.308G>C
ENST00000635858.1:n.149G>C
ENST00000635933.1:n.339G>C
ENST00000636062.1:n.205G>C
ENST00000636190.1:n.189G>C
ENST00000636225.1:c.*119G>C	ENSP00000490797.1:n.*119G>C
ENST00000636743.1:c.192+2341G>C	ENSP00000489725.1:n.192+2341G>C
ENST00000636808.1:c.*119G>C	ENSP00000490833.1:n.*119G>C
ENST00000636872.1:c.470G>C	ENSP00000490919.1:n.470G>C
ENST00000636879.1:c.310G>C	ENSP00000490811.1:p.Asp104His
ENST00000636886.1:c.192+2341G>C	ENSP00000490371.1:n.192+2341G>C
ENST00000637206.1:c.310G>C	ENSP00000489895.1:p.Asp104His
ENST00000637272.1:c.310G>C	ENSP00000489686.1:p.Asp104His
ENST00000637782.1:c.310G>C	ENSP00000490024.1:p.Asp104His
ENST00000637964.1:c.256G>C	ENSP00000490291.1:p.Asp86His
ENST00000638008.1:c.*119G>C	ENSP00000490400.1:n.*119G>C
ENST00000409134.7:c.310G>C	ENSP00000387123.3:p.Asp104His
ENST00000412186.1:c.*119G>C	ENSP00000414536.1:n.*119G>C
ENST00000413020.5:c.310G>C	ENSP00000487936.1:p.Asp104His
ENST00000447989.6:c.391G>C	ENSP00000414132.2:p.Asp131His
ENST00000458249.5:c.470G>C	ENSP00000403929.1:n.470G>C
ENST00000479989.5:n.493G>C
ENST00000503281.5:c.106+2341G>C
ENST00000509270.1:c.192+2341G>C	ENSP00000449318.1:n.192+2341G>C
ENST00000509459.5:c.65+2341G>C
ENST00000510111.6:c.304G>C	ENSP00000447388.1:p.Asp102His
ENST00000511266.5:n.265G>C
ENST00000553117.5:c.310G>C	ENSP00000448593.1:p.Asp104His
NM_001182.4:c.310G>C	NP_001173.2:p.Asp104His
NM_001201377.1:c.226G>C	NP_001188306.1:p.Asp76His
NM_001202404.1:c.391G>C	NP_001189333.1:p.Asp131His
XM_011543417.1:c.-96G>C	XP_011541719.1:n.-96G>C
XM_011543417.2:c.-96G>C	XP_011541719.1:n.-96G>C
NM_001182.5:c.310G>C MANE Select	NP_001173.2:p.Asp104His
NM_001201377.2:c.226G>C	NP_001188306.1:p.Asp76His
NM_001202404.2:c.310G>C	NP_001189333.2:p.Asp104His