Canonical Allele Identifier: CA803487004

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1371019465
• gnomAD v3: 5-126544861-G-C
• gnomAD v4: 5-126544861-G-C
• MyVariant Identifiers: chr5:g.125880553G>C (hg19) ; chr5:g.126544861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544861G>C , CM000667.2:g.126544861G>C	GRCh38
NC_000005.9:g.125880553G>C , CM000667.1:g.125880553G>C	GRCh37
NC_000005.8:g.125908452G>C	NCBI36
NG_008600.2:g.55530C>G
NG_008600.3:g.55530C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.*104C>G MANE Select	ENSP00000387123.3:n.*104C>G
ENST00000458249.6:c.*1633C>G	ENSP00000403929.1:n.*1633C>G
ENST00000485852.7:n.471C>G
ENST00000497231.7:n.2151C>G
ENST00000635851.1:c.1563+1463C>G
ENST00000636482.1:n.1258C>G
ENST00000636743.1:c.*104C>G	ENSP00000489725.1:n.*104C>G
ENST00000636808.1:c.*1533C>G	ENSP00000490833.1:n.*1533C>G
ENST00000636872.1:c.1884C>G	ENSP00000490919.1:n.1884C>G
ENST00000636879.1:c.*104C>G	ENSP00000490811.1:n.*104C>G
ENST00000636886.1:c.*104C>G	ENSP00000490371.1:n.*104C>G
ENST00000637206.1:c.*104C>G	ENSP00000489895.1:n.*104C>G
ENST00000637272.1:c.*104C>G	ENSP00000489686.1:n.*104C>G
ENST00000637292.1:c.1180C>G
ENST00000637782.1:c.1565+1463C>G	ENSP00000490024.1:n.1565+1463C>G
ENST00000638008.1:c.*1568C>G	ENSP00000490400.1:n.*1568C>G
ENST00000638010.1:n.1670C>G
ENST00000409134.7:c.*104C>G	ENSP00000387123.3:n.*104C>G
ENST00000447989.6:c.*104C>G	ENSP00000414132.2:n.*104C>G
ENST00000485852.6:n.471C>G
ENST00000497231.6:n.1934C>G
ENST00000553117.5:c.*104C>G	ENSP00000448593.1:n.*104C>G
NM_001182.4:c.*104C>G	NP_001173.2:n.*104C>G
NM_001201377.1:c.*104C>G	NP_001188306.1:n.*104C>G
NM_001202404.1:c.*104C>G	NP_001189333.1:n.*104C>G
XM_011543417.1:c.*104C>G	XP_011541719.1:n.*104C>G
XM_011543417.2:c.*104C>G	XP_011541719.1:n.*104C>G
NM_001182.5:c.*104C>G MANE Select	NP_001173.2:n.*104C>G
NM_001201377.2:c.*104C>G	NP_001188306.1:n.*104C>G
NM_001202404.2:c.*104C>G	NP_001189333.2:n.*104C>G