Canonical Allele Identifier: CA192670763
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs974900910
gnomAD v3: 9-34649306-G-A
gnomAD v4: 9-34649306-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649306G>A , CM000671.2:g.34649306G>A GRCh38
NC_000009.11:g.34649303G>A , CM000671.1:g.34649303G>A GRCh37
NC_000009.10:g.34639303G>A NCBI36
NG_009029.1:g.7669G>A
NG_028966.1:g.2122G>A
NG_009029.2:g.7718G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*493-104G>A ENSP00000509954.1:n.*493-104G>A
ENST00000378842.8:c.905-104G>A MANE Select ENSP00000368119.4:n.905-104G>A
ENST00000378842.7:c.905-104G>A ENSP00000368119.3:n.905-104G>A
ENST00000450095.6:c.578-104G>A ENSP00000401956.2:n.578-104G>A
ENST00000488412.2:n.385G>A
ENST00000489643.6:n.1209G>A
ENST00000554550.5:c.*525-104G>A ENSP00000451435.1:n.*525-104G>A
ENST00000554638.5:n.1377-104G>A
ENST00000555020.5:n.1590G>A
ENST00000555754.1:n.353-104G>A
ENST00000556278.1:c.432+850G>A ENSP00000451792.1:n.432+850G>A
ENST00000557706.5:n.1480-104G>A
NM_000155.3:c.905-104G>A NP_000146.2:n.905-104G>A
NM_001258332.1:c.578-104G>A NP_001245261.1:n.578-104G>A
NM_000155.4:c.905-104G>A MANE Select NP_000146.2:n.905-104G>A
NM_001258332.2:c.578-104G>A NP_001245261.1:n.578-104G>A