Canonical Allele Identifier: CA5036205
Gene: GALT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371396
ClinVar RCV Id: RCV000410683

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648835dup , CM000671.2:g.34648835dup GRCh38
NC_000009.11:g.34648832dup , CM000671.1:g.34648832dup GRCh37
NC_000009.10:g.34638832dup NCBI36
NG_009029.1:g.7198dup
NG_028966.1:g.1651dup
NG_009029.2:g.7247dup

Transcript Alleles

HGVS Amino-acid change
NM_000155.3:c.761dup VV NP_000146.2:p.Leu255AlafsTer12
NM_001258332.1:c.434dup VV NP_001245261.1:p.Leu146AlafsTer12
ENST00000378842.7:c.761dup ENSP00000368119.3:p.Leu255AlafsTer12
ENST00000450095.6:c.434dup ENSP00000401956.2:p.Leu146AlafsTer12
ENST00000473506.6:c.*349dup ENSP00000432839.2:p.=
ENST00000489643.6:n.841dup
ENST00000554085.5:c.*505dup ENSP00000450419.1:p.=
ENST00000554550.5:c.*381dup ENSP00000451435.1:p.=
ENST00000554638.5:n.1233dup
ENST00000555020.5:n.1222dup
ENST00000555086.5:n.765dup
ENST00000555754.1:n.106dup
ENST00000556244.1:n.748dup
ENST00000556278.1:c.432+379dup ENSP00000451792.1:p.=
ENST00000557706.5:n.1323dup