Canonical Allele Identifier: CA360731029

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126577103-A-G
• MyVariant Identifiers: chr5:g.125912795A>G (hg19) ; chr5:g.126577103A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577103A>G , CM000667.2:g.126577103A>G	GRCh38
NC_000005.9:g.125912795A>G , CM000667.1:g.125912795A>G	GRCh37
NC_000005.8:g.125940694A>G	NCBI36
NG_008600.2:g.23288T>C
NG_008600.3:g.23288T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.626T>C MANE Select	ENSP00000387123.3:p.Met209Thr
ENST00000412186.2:c.502T>C	ENSP00000414536.2:n.502T>C
ENST00000413020.6:c.626T>C	ENSP00000487936.1:p.Met209Thr
ENST00000458249.6:c.*535T>C	ENSP00000403929.1:n.*535T>C
ENST00000503281.6:c.215T>C
ENST00000509270.2:c.560T>C	ENSP00000449318.2:p.Met187Thr
ENST00000509459.6:c.174T>C
ENST00000511266.6:n.1348T>C
ENST00000635851.1:c.624T>C
ENST00000636062.1:n.521T>C
ENST00000636225.1:c.*435T>C	ENSP00000490797.1:n.*435T>C
ENST00000636286.1:n.344T>C
ENST00000636743.1:c.506T>C	ENSP00000489725.1:p.Met169Thr
ENST00000636808.1:c.*435T>C	ENSP00000490833.1:n.*435T>C
ENST00000636872.1:c.786T>C	ENSP00000490919.1:n.786T>C
ENST00000636879.1:c.671T>C	ENSP00000490811.1:p.Met224Thr
ENST00000636886.1:c.425T>C	ENSP00000490371.1:p.Met142Thr
ENST00000637206.1:c.626T>C	ENSP00000489895.1:p.Met209Thr
ENST00000637272.1:c.626T>C	ENSP00000489686.1:p.Met209Thr
ENST00000637292.1:c.279T>C
ENST00000637782.1:c.626T>C	ENSP00000490024.1:p.Met209Thr
ENST00000637964.1:c.572T>C	ENSP00000490291.1:p.Met191Thr
ENST00000638008.1:c.*568T>C	ENSP00000490400.1:n.*568T>C
ENST00000409134.7:c.626T>C	ENSP00000387123.3:p.Met209Thr
ENST00000413020.5:c.626T>C	ENSP00000487936.1:p.Met209Thr
ENST00000433026.5:n.153T>C
ENST00000447989.6:c.707T>C	ENSP00000414132.2:p.Met236Thr
ENST00000458249.5:c.786T>C	ENSP00000403929.1:n.786T>C
ENST00000503281.5:c.215T>C
ENST00000509459.5:c.174T>C
ENST00000510111.6:c.539T>C	ENSP00000447388.1:p.Met180Thr
ENST00000511266.5:n.457T>C
ENST00000553117.5:c.626T>C	ENSP00000448593.1:p.Met209Thr
NM_001182.4:c.626T>C	NP_001173.2:p.Met209Thr
NM_001201377.1:c.542T>C	NP_001188306.1:p.Met181Thr
NM_001202404.1:c.707T>C	NP_001189333.1:p.Met236Thr
XM_011543417.1:c.221T>C	XP_011541719.1:p.Met74Thr
XM_011543417.2:c.221T>C	XP_011541719.1:p.Met74Thr
NM_001182.5:c.626T>C MANE Select	NP_001173.2:p.Met209Thr
NM_001201377.2:c.542T>C	NP_001188306.1:p.Met181Thr
NM_001202404.2:c.626T>C	NP_001189333.2:p.Met209Thr