Canonical Allele Identifier: CA863497213
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1289920864
gnomAD v3: 9-34649350-G-A
gnomAD v4: 9-34649350-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649350G>A , CM000671.2:g.34649350G>A GRCh38
NC_000009.11:g.34649347G>A , CM000671.1:g.34649347G>A GRCh37
NC_000009.10:g.34639347G>A NCBI36
NG_009029.1:g.7713G>A
NG_028966.1:g.2166G>A
NG_009029.2:g.7762G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*493-60G>A ENSP00000509954.1:n.*493-60G>A
ENST00000378842.8:c.905-60G>A MANE Select ENSP00000368119.4:n.905-60G>A
ENST00000378842.7:c.905-60G>A ENSP00000368119.3:n.905-60G>A
ENST00000450095.6:c.578-60G>A ENSP00000401956.2:n.578-60G>A
ENST00000488412.2:n.429G>A
ENST00000489643.6:n.1253G>A
ENST00000554550.5:c.*525-60G>A ENSP00000451435.1:n.*525-60G>A
ENST00000554638.5:n.1377-60G>A
ENST00000555020.5:n.1634G>A
ENST00000555754.1:n.353-60G>A
ENST00000556278.1:c.432+894G>A ENSP00000451792.1:n.432+894G>A
ENST00000557706.5:n.1480-60G>A
NM_000155.3:c.905-60G>A NP_000146.2:n.905-60G>A
NM_001258332.1:c.578-60G>A NP_001245261.1:n.578-60G>A
NM_000155.4:c.905-60G>A MANE Select NP_000146.2:n.905-60G>A
NM_001258332.2:c.578-60G>A NP_001245261.1:n.578-60G>A