Canonical Allele Identifier: CA562230512

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1437177601
• gnomAD v2: 5-125880505-T-G
• gnomAD v3: 5-126544813-T-G
• gnomAD v4: 5-126544813-T-G
• MyVariant Identifiers: chr5:g.125880505T>G (hg19) ; chr5:g.126544813T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544813T>G , CM000667.2:g.126544813T>G	GRCh38
NC_000005.9:g.125880505T>G , CM000667.1:g.125880505T>G	GRCh37
NC_000005.8:g.125908404T>G	NCBI36
NG_008600.2:g.55578A>C
NG_008600.3:g.55578A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.*152A>C MANE Select	ENSP00000387123.3:n.*152A>C
ENST00000458249.6:c.*1681A>C	ENSP00000403929.1:n.*1681A>C
ENST00000485852.7:n.519A>C
ENST00000497231.7:n.2199A>C
ENST00000635851.1:c.1563+1511A>C
ENST00000636482.1:n.1306A>C
ENST00000636743.1:c.*152A>C	ENSP00000489725.1:n.*152A>C
ENST00000636808.1:c.*1581A>C	ENSP00000490833.1:n.*1581A>C
ENST00000636872.1:c.1932A>C	ENSP00000490919.1:n.1932A>C
ENST00000636879.1:c.*152A>C	ENSP00000490811.1:n.*152A>C
ENST00000636886.1:c.*152A>C	ENSP00000490371.1:n.*152A>C
ENST00000637206.1:c.*152A>C	ENSP00000489895.1:n.*152A>C
ENST00000637272.1:c.*152A>C	ENSP00000489686.1:n.*152A>C
ENST00000637782.1:c.1565+1511A>C	ENSP00000490024.1:n.1565+1511A>C
ENST00000638010.1:n.1718A>C
ENST00000409134.7:c.*152A>C	ENSP00000387123.3:n.*152A>C
ENST00000447989.6:c.*152A>C	ENSP00000414132.2:n.*152A>C
ENST00000485852.6:n.519A>C
ENST00000497231.6:n.1982A>C
ENST00000553117.5:c.*152A>C	ENSP00000448593.1:n.*152A>C
NM_001182.4:c.*152A>C	NP_001173.2:n.*152A>C
NM_001201377.1:c.*152A>C	NP_001188306.1:n.*152A>C
NM_001202404.1:c.*152A>C	NP_001189333.1:n.*152A>C
XM_011543417.1:c.*152A>C	XP_011541719.1:n.*152A>C
XM_011543417.2:c.*152A>C	XP_011541719.1:n.*152A>C
NM_001182.5:c.*152A>C MANE Select	NP_001173.2:n.*152A>C
NM_001201377.2:c.*152A>C	NP_001188306.1:n.*152A>C
NM_001202404.2:c.*152A>C	NP_001189333.2:n.*152A>C