Canonical Allele Identifier: CA360733093

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1164103661
• MyVariant Identifiers: chr5:g.125928368T>A (hg19) ; chr5:g.126592676T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126592676T>A , CM000667.2:g.126592676T>A	GRCh38
NC_000005.9:g.125928368T>A , CM000667.1:g.125928368T>A	GRCh37
NC_000005.8:g.125956267T>A	NCBI36
NG_008600.2:g.7715A>T
NG_008600.3:g.7715A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.300A>T MANE Select	ENSP00000387123.3:p.Lys100Asn
ENST00000412186.2:c.300A>T	ENSP00000414536.2:p.Lys100Asn
ENST00000413020.6:c.300A>T	ENSP00000487936.1:p.Lys100Asn
ENST00000458249.6:c.*209A>T	ENSP00000403929.1:n.*209A>T
ENST00000479989.6:n.483A>T
ENST00000503281.6:c.106+2331A>T
ENST00000509270.2:c.246+675A>T	ENSP00000449318.2:n.246+675A>T
ENST00000509459.6:c.65+2331A>T
ENST00000511266.6:n.1022A>T
ENST00000635851.1:c.298A>T
ENST00000635858.1:n.139A>T
ENST00000635933.1:n.329A>T
ENST00000636062.1:n.195A>T
ENST00000636190.1:n.179A>T
ENST00000636225.1:c.*109A>T	ENSP00000490797.1:n.*109A>T
ENST00000636743.1:c.192+2331A>T	ENSP00000489725.1:n.192+2331A>T
ENST00000636808.1:c.*109A>T	ENSP00000490833.1:n.*109A>T
ENST00000636872.1:c.460A>T	ENSP00000490919.1:n.460A>T
ENST00000636879.1:c.300A>T	ENSP00000490811.1:p.Lys100Asn
ENST00000636886.1:c.192+2331A>T	ENSP00000490371.1:n.192+2331A>T
ENST00000637206.1:c.300A>T	ENSP00000489895.1:p.Lys100Asn
ENST00000637272.1:c.300A>T	ENSP00000489686.1:p.Lys100Asn
ENST00000637782.1:c.300A>T	ENSP00000490024.1:p.Lys100Asn
ENST00000637964.1:c.246A>T	ENSP00000490291.1:p.Lys82Asn
ENST00000638008.1:c.*109A>T	ENSP00000490400.1:n.*109A>T
ENST00000409134.7:c.300A>T	ENSP00000387123.3:p.Lys100Asn
ENST00000412186.1:c.*109A>T	ENSP00000414536.1:n.*109A>T
ENST00000413020.5:c.300A>T	ENSP00000487936.1:p.Lys100Asn
ENST00000447989.6:c.381A>T	ENSP00000414132.2:p.Lys127Asn
ENST00000458249.5:c.460A>T	ENSP00000403929.1:n.460A>T
ENST00000479989.5:n.483A>T
ENST00000503281.5:c.106+2331A>T
ENST00000509270.1:c.192+2331A>T	ENSP00000449318.1:n.192+2331A>T
ENST00000509459.5:c.65+2331A>T
ENST00000510111.6:c.294A>T	ENSP00000447388.1:p.Lys98Asn
ENST00000511266.5:n.255A>T
ENST00000553117.5:c.300A>T	ENSP00000448593.1:p.Lys100Asn
NM_001182.4:c.300A>T	NP_001173.2:p.Lys100Asn
NM_001201377.1:c.216A>T	NP_001188306.1:p.Lys72Asn
NM_001202404.1:c.381A>T	NP_001189333.1:p.Lys127Asn
XM_011543417.1:c.-106A>T	XP_011541719.1:n.-106A>T
XM_011543417.2:c.-106A>T	XP_011541719.1:n.-106A>T
NM_001182.5:c.300A>T MANE Select	NP_001173.2:p.Lys100Asn
NM_001201377.2:c.216A>T	NP_001188306.1:p.Lys72Asn
NM_001202404.2:c.300A>T	NP_001189333.2:p.Lys100Asn