Canonical Allele Identifier: CA16618103

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 420019
• ClinVar RCV Id: RCV000484489 ; RCV003517199
• dbSNP Id: rs1064794242
• gnomAD v4: 5-126595022-C-T
• MyVariant Identifiers: chr5:g.125930714C>T (hg19) ; chr5:g.126595022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126595022C>T , CM000667.2:g.126595022C>T	GRCh38
NC_000005.9:g.125930714C>T , CM000667.1:g.125930714C>T	GRCh37
NC_000005.8:g.125958613C>T	NCBI36
NG_008600.2:g.5369G>A
NG_008600.3:g.5369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.177G>A MANE Select	ENSP00000387123.3:p.Trp59Ter
ENST00000412186.2:c.177G>A	ENSP00000414536.2:p.Trp59Ter
ENST00000413020.6:c.177G>A	ENSP00000487936.1:p.Trp59Ter
ENST00000458249.6:c.177G>A	ENSP00000403929.1:p.Trp59Ter
ENST00000503281.6:c.91G>A
ENST00000509270.2:c.177G>A	ENSP00000449318.2:p.Trp59Ter
ENST00000509459.6:c.50G>A
ENST00000635851.1:c.175G>A
ENST00000635933.1:n.206G>A
ENST00000636062.1:n.72G>A
ENST00000636190.1:n.56G>A
ENST00000636225.1:c.177G>A	ENSP00000490797.1:p.Trp59Ter
ENST00000636743.1:c.177G>A	ENSP00000489725.1:p.Trp59Ter
ENST00000636808.1:c.177G>A	ENSP00000490833.1:p.Trp59Ter
ENST00000636872.1:c.177G>A	ENSP00000490919.1:p.Trp59Ter
ENST00000636879.1:c.177G>A	ENSP00000490811.1:p.Trp59Ter
ENST00000636886.1:c.177G>A	ENSP00000490371.1:p.Trp59Ter
ENST00000637206.1:c.177G>A	ENSP00000489895.1:p.Trp59Ter
ENST00000637272.1:c.177G>A	ENSP00000489686.1:p.Trp59Ter
ENST00000637782.1:c.177G>A	ENSP00000490024.1:p.Trp59Ter
ENST00000637964.1:c.177G>A	ENSP00000490291.1:p.Trp59Ter
ENST00000638008.1:c.177G>A	ENSP00000490400.1:p.Trp59Ter
ENST00000409134.7:c.177G>A	ENSP00000387123.3:p.Trp59Ter
ENST00000412186.1:c.177G>A	ENSP00000414536.1:p.Trp59Ter
ENST00000413020.5:c.177G>A	ENSP00000487936.1:p.Trp59Ter
ENST00000447989.6:c.258G>A	ENSP00000414132.2:p.Trp86Ter
ENST00000458249.5:c.177G>A	ENSP00000403929.1:p.Trp59Ter
ENST00000503281.5:c.91G>A
ENST00000509270.1:c.177G>A	ENSP00000449318.1:p.Trp59Ter
ENST00000509459.5:c.50G>A
ENST00000510111.6:c.171G>A	ENSP00000447388.1:p.Trp57Ter
ENST00000511266.5:n.132G>A
ENST00000553117.5:c.177G>A	ENSP00000448593.1:p.Trp59Ter
NM_001182.4:c.177G>A	NP_001173.2:p.Trp59Ter
NM_001201377.1:c.93G>A	NP_001188306.1:p.Trp31Ter
NM_001202404.1:c.258G>A	NP_001189333.1:p.Trp86Ter
NM_001182.5:c.177G>A MANE Select	NP_001173.2:p.Trp59Ter
NM_001201377.2:c.93G>A	NP_001188306.1:p.Trp31Ter
NM_001202404.2:c.177G>A	NP_001189333.2:p.Trp59Ter