Canonical Allele Identifier: CA1580440347

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544864A= , CM000667.2:g.126544864A=	GRCh38
NC_000005.9:g.125880556A= , CM000667.1:g.125880556A=	GRCh37
NC_000005.8:g.125908455A=	NCBI36
NG_008600.2:g.55527T=
NG_008600.3:g.55527T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.*101T= MANE Select	ENSP00000387123.3:n.*101T=
ENST00000458249.6:c.*1630T=	ENSP00000403929.1:n.*1630T=
ENST00000485852.7:n.468T=
ENST00000497231.7:n.2148T=
ENST00000635851.1:c.1563+1460T=
ENST00000636482.1:n.1255T=
ENST00000636743.1:c.*101T=	ENSP00000489725.1:n.*101T=
ENST00000636808.1:c.*1530T=	ENSP00000490833.1:n.*1530T=
ENST00000636872.1:c.1881T=	ENSP00000490919.1:n.1881T=
ENST00000636879.1:c.*101T=	ENSP00000490811.1:n.*101T=
ENST00000636886.1:c.*101T=	ENSP00000490371.1:n.*101T=
ENST00000637206.1:c.*101T=	ENSP00000489895.1:n.*101T=
ENST00000637272.1:c.*101T=	ENSP00000489686.1:n.*101T=
ENST00000637292.1:c.1177T=
ENST00000637782.1:c.1565+1460T=	ENSP00000490024.1:n.1565+1460T=
ENST00000638008.1:c.*1565T=	ENSP00000490400.1:n.*1565T=
ENST00000638010.1:n.1667T=
ENST00000409134.7:c.*101T=	ENSP00000387123.3:n.*101T=
ENST00000447989.6:c.*101T=	ENSP00000414132.2:n.*101T=
ENST00000485852.6:n.468T=
ENST00000497231.6:n.1931T=
ENST00000553117.5:c.*101T=	ENSP00000448593.1:n.*101T=
NM_001182.4:c.*101T=	NP_001173.2:n.*101T=
NM_001201377.1:c.*101T=	NP_001188306.1:n.*101T=
NM_001202404.1:c.*101T=	NP_001189333.1:n.*101T=
XM_011543417.1:c.*101T=	XP_011541719.1:n.*101T=
XM_011543417.2:c.*101T=	XP_011541719.1:n.*101T=
NM_001182.5:c.*101T= MANE Select	NP_001173.2:n.*101T=
NM_001201377.2:c.*101T=	NP_001188306.1:n.*101T=
NM_001202404.2:c.*101T=	NP_001189333.2:n.*101T=