Canonical Allele Identifier: CA360733076

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1366706416
• gnomAD v3: 5-126592672-A-G
• gnomAD v4: 5-126592672-A-G
• MyVariant Identifiers: chr5:g.125928364A>G (hg19) ; chr5:g.126592672A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126592672A>G , CM000667.2:g.126592672A>G	GRCh38
NC_000005.9:g.125928364A>G , CM000667.1:g.125928364A>G	GRCh37
NC_000005.8:g.125956263A>G	NCBI36
NG_008600.2:g.7719T>C
NG_008600.3:g.7719T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.304T>C MANE Select	ENSP00000387123.3:p.Trp102Arg
ENST00000412186.2:c.304T>C	ENSP00000414536.2:p.Trp102Arg
ENST00000413020.6:c.304T>C	ENSP00000487936.1:p.Trp102Arg
ENST00000458249.6:c.*213T>C	ENSP00000403929.1:n.*213T>C
ENST00000479989.6:n.487T>C
ENST00000503281.6:c.106+2335T>C
ENST00000509270.2:c.246+679T>C	ENSP00000449318.2:n.246+679T>C
ENST00000509459.6:c.65+2335T>C
ENST00000511266.6:n.1026T>C
ENST00000635851.1:c.302T>C
ENST00000635858.1:n.143T>C
ENST00000635933.1:n.333T>C
ENST00000636062.1:n.199T>C
ENST00000636190.1:n.183T>C
ENST00000636225.1:c.*113T>C	ENSP00000490797.1:n.*113T>C
ENST00000636743.1:c.192+2335T>C	ENSP00000489725.1:n.192+2335T>C
ENST00000636808.1:c.*113T>C	ENSP00000490833.1:n.*113T>C
ENST00000636872.1:c.464T>C	ENSP00000490919.1:n.464T>C
ENST00000636879.1:c.304T>C	ENSP00000490811.1:p.Trp102Arg
ENST00000636886.1:c.192+2335T>C	ENSP00000490371.1:n.192+2335T>C
ENST00000637206.1:c.304T>C	ENSP00000489895.1:p.Trp102Arg
ENST00000637272.1:c.304T>C	ENSP00000489686.1:p.Trp102Arg
ENST00000637782.1:c.304T>C	ENSP00000490024.1:p.Trp102Arg
ENST00000637964.1:c.250T>C	ENSP00000490291.1:p.Trp84Arg
ENST00000638008.1:c.*113T>C	ENSP00000490400.1:n.*113T>C
ENST00000409134.7:c.304T>C	ENSP00000387123.3:p.Trp102Arg
ENST00000412186.1:c.*113T>C	ENSP00000414536.1:n.*113T>C
ENST00000413020.5:c.304T>C	ENSP00000487936.1:p.Trp102Arg
ENST00000447989.6:c.385T>C	ENSP00000414132.2:p.Trp129Arg
ENST00000458249.5:c.464T>C	ENSP00000403929.1:n.464T>C
ENST00000479989.5:n.487T>C
ENST00000503281.5:c.106+2335T>C
ENST00000509270.1:c.192+2335T>C	ENSP00000449318.1:n.192+2335T>C
ENST00000509459.5:c.65+2335T>C
ENST00000510111.6:c.298T>C	ENSP00000447388.1:p.Trp100Arg
ENST00000511266.5:n.259T>C
ENST00000553117.5:c.304T>C	ENSP00000448593.1:p.Trp102Arg
NM_001182.4:c.304T>C	NP_001173.2:p.Trp102Arg
NM_001201377.1:c.220T>C	NP_001188306.1:p.Trp74Arg
NM_001202404.1:c.385T>C	NP_001189333.1:p.Trp129Arg
XM_011543417.1:c.-102T>C	XP_011541719.1:n.-102T>C
XM_011543417.2:c.-102T>C	XP_011541719.1:n.-102T>C
NM_001182.5:c.304T>C MANE Select	NP_001173.2:p.Trp102Arg
NM_001201377.2:c.220T>C	NP_001188306.1:p.Trp74Arg
NM_001202404.2:c.304T>C	NP_001189333.2:p.Trp102Arg