Canonical Allele Identifier: CA373280241
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647656G>C , CM000671.2:g.34647656G>C GRCh38
NC_000009.11:g.34647653G>C , CM000671.1:g.34647653G>C GRCh37
NC_000009.10:g.34637653G>C NCBI36
NG_009029.1:g.6019G>C
NG_028966.1:g.472G>C
NG_009029.2:g.6068G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.328+89G>C ENSP00000509954.1:n.328+89G>C
ENST00000378842.8:c.329-1G>C MANE Select ENSP00000368119.4:n.329-1G>C
ENST00000378842.7:c.329-1G>C ENSP00000368119.3:n.329-1G>C
ENST00000450095.6:c.51-176G>C ENSP00000401956.2:n.51-176G>C
ENST00000465543.6:n.668-1G>C
ENST00000472111.5:n.458G>C
ENST00000473506.6:c.280-1G>C ENSP00000432839.2:n.280-1G>C
ENST00000473529.5:n.464G>C
ENST00000485531.1:n.643G>C
ENST00000487381.5:n.588-1G>C
ENST00000489643.6:n.282+398G>C
ENST00000554085.5:c.*73-1G>C ENSP00000450419.1:n.*73-1G>C
ENST00000554139.5:n.382-1G>C
ENST00000554330.5:n.365G>C
ENST00000554550.5:c.253-176G>C ENSP00000451435.1:n.253-176G>C
ENST00000554638.5:n.674G>C
ENST00000554897.5:c.253-176G>C ENSP00000450942.1:n.253-176G>C
ENST00000554944.5:n.398G>C
ENST00000555020.5:n.359-1G>C
ENST00000555086.5:n.333-1G>C
ENST00000555214.5:n.262-392G>C
ENST00000556157.1:n.453-1G>C
ENST00000556244.1:c.316-1G>C
ENST00000556278.1:c.252+398G>C ENSP00000451792.1:n.252+398G>C
ENST00000556403.5:n.430G>C
ENST00000556494.5:n.449G>C
ENST00000557541.5:n.473-1G>C
ENST00000557706.5:n.764G>C
NM_000155.3:c.329-1G>C NP_000146.2:n.329-1G>C
NM_001258332.1:c.51-176G>C NP_001245261.1:n.51-176G>C
NM_000155.4:c.329-1G>C MANE Select NP_000146.2:n.329-1G>C
NM_001258332.2:c.51-176G>C NP_001245261.1:n.51-176G>C