Canonical Allele Identifier: CA2675066764

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126545022-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545022A>G , CM000667.2:g.126545022A>G	GRCh38
NC_000005.9:g.125880714A>G , CM000667.1:g.125880714A>G	GRCh37
NC_000005.8:g.125908613A>G	NCBI36
NG_008600.2:g.55369T>C
NG_008600.3:g.55369T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1566-3T>C MANE Select	ENSP00000387123.3:n.1566-3T>C
ENST00000458249.6:c.*1475-3T>C	ENSP00000403929.1:n.*1475-3T>C
ENST00000485852.7:n.313-3T>C
ENST00000497231.7:n.1993-3T>C
ENST00000635851.1:c.1563+1302T>C
ENST00000636286.1:n.1331-3T>C
ENST00000636482.1:n.1100-3T>C
ENST00000636743.1:c.1446-3T>C	ENSP00000489725.1:n.1446-3T>C
ENST00000636808.1:c.*1375-3T>C	ENSP00000490833.1:n.*1375-3T>C
ENST00000636872.1:c.1726-3T>C	ENSP00000490919.1:n.1726-3T>C
ENST00000636879.1:c.1611-3T>C	ENSP00000490811.1:n.1611-3T>C
ENST00000636886.1:c.1365-3T>C	ENSP00000490371.1:n.1365-3T>C
ENST00000637206.1:c.1386-3T>C	ENSP00000489895.1:n.1386-3T>C
ENST00000637272.1:c.1557-3T>C	ENSP00000489686.1:n.1557-3T>C
ENST00000637292.1:c.1022-3T>C
ENST00000637782.1:c.1565+1302T>C	ENSP00000490024.1:n.1565+1302T>C
ENST00000638008.1:c.*1410-3T>C	ENSP00000490400.1:n.*1410-3T>C
ENST00000638010.1:n.1512-3T>C
ENST00000409134.7:c.1566-3T>C	ENSP00000387123.3:n.1566-3T>C
ENST00000447989.6:c.1455-3T>C	ENSP00000414132.2:n.1455-3T>C
ENST00000485852.6:n.313-3T>C
ENST00000497231.6:n.1776-3T>C
ENST00000553117.5:c.1374-3T>C	ENSP00000448593.1:n.1374-3T>C
NM_001182.4:c.1566-3T>C	NP_001173.2:n.1566-3T>C
NM_001201377.1:c.1482-3T>C	NP_001188306.1:n.1482-3T>C
NM_001202404.1:c.1455-3T>C	NP_001189333.1:n.1455-3T>C
XM_011543417.1:c.1161-3T>C	XP_011541719.1:n.1161-3T>C
XM_011543417.2:c.1161-3T>C	XP_011541719.1:n.1161-3T>C
NM_001182.5:c.1566-3T>C MANE Select	NP_001173.2:n.1566-3T>C
NM_001201377.2:c.1482-3T>C	NP_001188306.1:n.1482-3T>C
NM_001202404.2:c.1374-3T>C	NP_001189333.2:n.1374-3T>C