Canonical Allele Identifier: CA2689808716
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34648253-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648253G>C , CM000671.2:g.34648253G>C GRCh38
NC_000009.11:g.34648250G>C , CM000671.1:g.34648250G>C GRCh37
NC_000009.10:g.34638250G>C NCBI36
NG_009029.1:g.6616G>C
NG_028966.1:g.1069G>C
NG_009029.2:g.6665G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*153-81G>C ENSP00000509954.1:n.*153-81G>C
ENST00000378842.8:c.565-81G>C MANE Select ENSP00000368119.4:n.565-81G>C
ENST00000378842.7:c.565-81G>C ENSP00000368119.3:n.565-81G>C
ENST00000450095.6:c.238-81G>C ENSP00000401956.2:n.238-81G>C
ENST00000472111.5:n.821-81G>C
ENST00000473506.6:c.*153-81G>C ENSP00000432839.2:n.*153-81G>C
ENST00000473529.5:n.724-81G>C
ENST00000485531.1:n.1159-81G>C
ENST00000487381.5:n.950-81G>C
ENST00000489643.6:n.340-81G>C
ENST00000554085.5:c.*309-81G>C ENSP00000450419.1:n.*309-81G>C
ENST00000554139.5:n.811-81G>C
ENST00000554550.5:c.*185-81G>C ENSP00000451435.1:n.*185-81G>C
ENST00000554638.5:n.1037-81G>C
ENST00000554897.5:c.*252-81G>C ENSP00000450942.1:n.*252-81G>C
ENST00000554944.5:n.914-81G>C
ENST00000555020.5:n.721-81G>C
ENST00000555086.5:n.569-81G>C
ENST00000555214.5:n.386-81G>C
ENST00000556244.1:c.552-81G>C
ENST00000556278.1:c.310-81G>C ENSP00000451792.1:n.310-81G>C
ENST00000556494.5:n.686-81G>C
ENST00000557706.5:n.1127-81G>C
NM_000155.3:c.565-81G>C NP_000146.2:n.565-81G>C
NM_001258332.1:c.238-81G>C NP_001245261.1:n.238-81G>C
NM_000155.4:c.565-81G>C MANE Select NP_000146.2:n.565-81G>C
NM_001258332.2:c.238-81G>C NP_001245261.1:n.238-81G>C