Canonical Allele Identifier: CA1123157557
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs775491160
gnomAD v3: 9-34648969-C-T
gnomAD v4: 9-34648969-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648969C>T , CM000671.2:g.34648969C>T GRCh38
NC_000009.11:g.34648966C>T , CM000671.1:g.34648966C>T GRCh37
NC_000009.10:g.34638966C>T NCBI36
NG_009029.1:g.7332C>T
NG_028966.1:g.1785C>T
NG_009029.2:g.7381C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*409-29C>T ENSP00000509954.1:n.*409-29C>T
ENST00000378842.8:c.821-29C>T MANE Select ENSP00000368119.4:n.821-29C>T
ENST00000378842.7:c.821-29C>T ENSP00000368119.3:n.821-29C>T
ENST00000450095.6:c.494-29C>T ENSP00000401956.2:n.494-29C>T
ENST00000488412.2:n.48C>T
ENST00000489643.6:n.901-29C>T
ENST00000554085.5:c.*565-29C>T ENSP00000450419.1:n.*565-29C>T
ENST00000554550.5:c.*441-29C>T ENSP00000451435.1:n.*441-29C>T
ENST00000554638.5:n.1293-29C>T
ENST00000555020.5:n.1282-29C>T
ENST00000555086.5:n.899C>T
ENST00000555754.1:n.240C>T
ENST00000556278.1:c.432+513C>T ENSP00000451792.1:n.432+513C>T
ENST00000557706.5:n.1396-29C>T
NM_000155.3:c.821-29C>T NP_000146.2:n.821-29C>T
NM_001258332.1:c.494-29C>T NP_001245261.1:n.494-29C>T
NM_000155.4:c.821-29C>T MANE Select NP_000146.2:n.821-29C>T
NM_001258332.2:c.494-29C>T NP_001245261.1:n.494-29C>T