Canonical Allele Identifier: CA587568391
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1404753969
gnomAD v2: 9-34648304-T-C
gnomAD v4: 9-34648307-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648307T>C , CM000671.2:g.34648307T>C GRCh38
NC_000009.11:g.34648304T>C , CM000671.1:g.34648304T>C GRCh37
NC_000009.10:g.34638304T>C NCBI36
NG_009029.1:g.6670T>C
NG_028966.1:g.1123T>C
NG_009029.2:g.6719T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*153-27T>C ENSP00000509954.1:n.*153-27T>C
ENST00000378842.8:c.565-27T>C MANE Select ENSP00000368119.4:n.565-27T>C
ENST00000378842.7:c.565-27T>C ENSP00000368119.3:n.565-27T>C
ENST00000450095.6:c.238-27T>C ENSP00000401956.2:n.238-27T>C
ENST00000472111.5:n.821-27T>C
ENST00000473506.6:c.*153-27T>C ENSP00000432839.2:n.*153-27T>C
ENST00000473529.5:n.724-27T>C
ENST00000485531.1:n.1159-27T>C
ENST00000487381.5:n.950-27T>C
ENST00000489643.6:n.340-27T>C
ENST00000554085.5:c.*309-27T>C ENSP00000450419.1:n.*309-27T>C
ENST00000554139.5:n.811-27T>C
ENST00000554550.5:c.*185-27T>C ENSP00000451435.1:n.*185-27T>C
ENST00000554638.5:n.1037-27T>C
ENST00000554897.5:c.*252-27T>C ENSP00000450942.1:n.*252-27T>C
ENST00000554944.5:n.914-27T>C
ENST00000555020.5:n.721-27T>C
ENST00000555086.5:n.569-27T>C
ENST00000555214.5:n.386-27T>C
ENST00000556244.1:c.552-27T>C
ENST00000556278.1:c.310-27T>C ENSP00000451792.1:n.310-27T>C
ENST00000556494.5:n.686-27T>C
ENST00000557706.5:n.1127-27T>C
NM_000155.3:c.565-27T>C NP_000146.2:n.565-27T>C
NM_001258332.1:c.238-27T>C NP_001245261.1:n.238-27T>C
NM_000155.4:c.565-27T>C MANE Select NP_000146.2:n.565-27T>C
NM_001258332.2:c.238-27T>C NP_001245261.1:n.238-27T>C