Canonical Allele Identifier: CA360730979

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126577091-T-C
• MyVariant Identifiers: chr5:g.125912783T>C (hg19) ; chr5:g.126577091T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577091T>C , CM000667.2:g.126577091T>C	GRCh38
NC_000005.9:g.125912783T>C , CM000667.1:g.125912783T>C	GRCh37
NC_000005.8:g.125940682T>C	NCBI36
NG_008600.2:g.23300A>G
NG_008600.3:g.23300A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.638A>G MANE Select	ENSP00000387123.3:p.Asn213Ser
ENST00000412186.2:c.514A>G	ENSP00000414536.2:n.514A>G
ENST00000413020.6:c.638A>G	ENSP00000487936.1:p.Asn213Ser
ENST00000458249.6:c.*547A>G	ENSP00000403929.1:n.*547A>G
ENST00000503281.6:c.227A>G
ENST00000509270.2:c.572A>G	ENSP00000449318.2:p.Asn191Ser
ENST00000509459.6:c.186A>G
ENST00000511266.6:n.1360A>G
ENST00000635851.1:c.636A>G
ENST00000636062.1:n.533A>G
ENST00000636225.1:c.*447A>G	ENSP00000490797.1:n.*447A>G
ENST00000636286.1:n.356A>G
ENST00000636743.1:c.518A>G	ENSP00000489725.1:p.Asn173Ser
ENST00000636808.1:c.*447A>G	ENSP00000490833.1:n.*447A>G
ENST00000636872.1:c.798A>G	ENSP00000490919.1:n.798A>G
ENST00000636879.1:c.683A>G	ENSP00000490811.1:p.Asn228Ser
ENST00000636886.1:c.437A>G	ENSP00000490371.1:p.Asn146Ser
ENST00000637206.1:c.638A>G	ENSP00000489895.1:p.Asn213Ser
ENST00000637272.1:c.638A>G	ENSP00000489686.1:p.Asn213Ser
ENST00000637292.1:c.291A>G
ENST00000637782.1:c.638A>G	ENSP00000490024.1:p.Asn213Ser
ENST00000637964.1:c.584A>G	ENSP00000490291.1:p.Asn195Ser
ENST00000638008.1:c.*580A>G	ENSP00000490400.1:n.*580A>G
ENST00000409134.7:c.638A>G	ENSP00000387123.3:p.Asn213Ser
ENST00000413020.5:c.638A>G	ENSP00000487936.1:p.Asn213Ser
ENST00000433026.5:n.165A>G
ENST00000447989.6:c.719A>G	ENSP00000414132.2:p.Asn240Ser
ENST00000458249.5:c.798A>G	ENSP00000403929.1:n.798A>G
ENST00000503281.5:c.227A>G
ENST00000509459.5:c.186A>G
ENST00000510111.6:c.551A>G	ENSP00000447388.1:p.Asn184Ser
ENST00000511266.5:n.469A>G
ENST00000553117.5:c.638A>G	ENSP00000448593.1:p.Asn213Ser
NM_001182.4:c.638A>G	NP_001173.2:p.Asn213Ser
NM_001201377.1:c.554A>G	NP_001188306.1:p.Asn185Ser
NM_001202404.1:c.719A>G	NP_001189333.1:p.Asn240Ser
XM_011543417.1:c.233A>G	XP_011541719.1:p.Asn78Ser
XM_011543417.2:c.233A>G	XP_011541719.1:p.Asn78Ser
NM_001182.5:c.638A>G MANE Select	NP_001173.2:p.Asn213Ser
NM_001201377.2:c.554A>G	NP_001188306.1:p.Asn185Ser
NM_001202404.2:c.638A>G	NP_001189333.2:p.Asn213Ser