Canonical Allele Identifier: CA259577
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25325
ClinVar RCV Id: RCV000022271
dbSNP Id: rs111033818
gnomAD v4: 9-34649562-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649562C>T , CM000671.2:g.34649562C>T GRCh38
NC_000009.11:g.34649559C>T , CM000671.1:g.34649559C>T GRCh37
NC_000009.10:g.34639559C>T NCBI36
NG_009029.1:g.7925C>T
NG_028966.1:g.2378C>T
NG_009029.2:g.7974C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*645C>T ENSP00000509954.1:n.*645C>T
ENST00000378842.8:c.1057C>T MANE Select ENSP00000368119.4:p.Gln353Ter
ENST00000378842.7:c.1057C>T ENSP00000368119.3:p.Gln353Ter
ENST00000450095.6:c.730C>T ENSP00000401956.2:p.Gln244Ter
ENST00000488412.2:n.641C>T
ENST00000489643.6:n.1465C>T
ENST00000554550.5:c.*677C>T ENSP00000451435.1:n.*677C>T
ENST00000554638.5:n.1529C>T
ENST00000555020.5:n.1846C>T
ENST00000555754.1:n.505C>T
ENST00000556278.1:c.432+1106C>T ENSP00000451792.1:n.432+1106C>T
ENST00000557706.5:n.1632C>T
NM_000155.3:c.1057C>T NP_000146.2:p.Gln353Ter
NM_001258332.1:c.730C>T NP_001245261.1:p.Gln244Ter
NM_000155.4:c.1057C>T MANE Select NP_000146.2:p.Gln353Ter
NM_001258332.2:c.730C>T NP_001245261.1:p.Gln244Ter