Canonical Allele Identifier: CA373280506
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647830A>C , CM000671.2:g.34647830A>C GRCh38
NC_000009.11:g.34647827A>C , CM000671.1:g.34647827A>C GRCh37
NC_000009.10:g.34637827A>C NCBI36
NG_009029.1:g.6193A>C
NG_028966.1:g.646A>C
NG_009029.2:g.6242A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.329-2A>C ENSP00000509954.1:n.329-2A>C
ENST00000378842.8:c.378-2A>C MANE Select ENSP00000368119.4:n.378-2A>C
ENST00000378842.7:c.378-2A>C ENSP00000368119.3:n.378-2A>C
ENST00000450095.6:c.51-2A>C ENSP00000401956.2:n.51-2A>C
ENST00000465543.6:n.717-2A>C
ENST00000472111.5:n.632A>C
ENST00000473506.6:c.329-2A>C ENSP00000432839.2:n.329-2A>C
ENST00000473529.5:n.514-2A>C
ENST00000485531.1:n.817A>C
ENST00000487381.5:n.761A>C
ENST00000489643.6:n.283-285A>C
ENST00000554085.5:c.*122-2A>C ENSP00000450419.1:n.*122-2A>C
ENST00000554139.5:n.555A>C
ENST00000554330.5:n.539A>C
ENST00000554550.5:c.253-2A>C ENSP00000451435.1:n.253-2A>C
ENST00000554638.5:n.848A>C
ENST00000554897.5:c.253-2A>C ENSP00000450942.1:n.253-2A>C
ENST00000554944.5:n.572A>C
ENST00000555020.5:n.532A>C
ENST00000555086.5:n.382-2A>C
ENST00000555214.5:n.262-218A>C
ENST00000556244.1:c.365-2A>C
ENST00000556278.1:c.253-285A>C ENSP00000451792.1:n.253-285A>C
ENST00000556494.5:n.499-2A>C
ENST00000557541.5:n.522-2A>C
ENST00000557706.5:n.938A>C
NM_000155.3:c.378-2A>C NP_000146.2:n.378-2A>C
NM_001258332.1:c.51-2A>C NP_001245261.1:n.51-2A>C
NM_000155.4:c.378-2A>C MANE Select NP_000146.2:n.378-2A>C
NM_001258332.2:c.51-2A>C NP_001245261.1:n.51-2A>C