Canonical Allele Identifier: CA2689809783
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34648995-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648995C>T , CM000671.2:g.34648995C>T GRCh38
NC_000009.11:g.34648992C>T , CM000671.1:g.34648992C>T GRCh37
NC_000009.10:g.34638992C>T NCBI36
NG_009029.1:g.7358C>T
NG_028966.1:g.1811C>T
NG_009029.2:g.7407C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*409-3C>T ENSP00000509954.1:n.*409-3C>T
ENST00000378842.8:c.821-3C>T MANE Select ENSP00000368119.4:n.821-3C>T
ENST00000378842.7:c.821-3C>T ENSP00000368119.3:n.821-3C>T
ENST00000450095.6:c.494-3C>T ENSP00000401956.2:n.494-3C>T
ENST00000488412.2:n.74C>T
ENST00000489643.6:n.901-3C>T
ENST00000554085.5:c.*565-3C>T ENSP00000450419.1:n.*565-3C>T
ENST00000554550.5:c.*441-3C>T ENSP00000451435.1:n.*441-3C>T
ENST00000554638.5:n.1293-3C>T
ENST00000555020.5:n.1282-3C>T
ENST00000555086.5:n.925C>T
ENST00000555754.1:n.266C>T
ENST00000556278.1:c.432+539C>T ENSP00000451792.1:n.432+539C>T
ENST00000557706.5:n.1396-3C>T
NM_000155.3:c.821-3C>T NP_000146.2:n.821-3C>T
NM_001258332.1:c.494-3C>T NP_001245261.1:n.494-3C>T
NM_000155.4:c.821-3C>T MANE Select NP_000146.2:n.821-3C>T
NM_001258332.2:c.494-3C>T NP_001245261.1:n.494-3C>T