Canonical Allele Identifier: CA192669615
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1043535332

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647709A>C , CM000671.2:g.34647709A>C GRCh38
NC_000009.11:g.34647706A>C , CM000671.1:g.34647706A>C GRCh37
NC_000009.10:g.34637706A>C NCBI36
NG_009029.1:g.6072A>C
NG_028966.1:g.525A>C
NG_009029.2:g.6121A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.329-123A>C ENSP00000509954.1:n.329-123A>C
ENST00000378842.8:c.377+4A>C MANE Select ENSP00000368119.4:n.377+4A>C
ENST00000378842.7:c.377+4A>C ENSP00000368119.3:n.377+4A>C
ENST00000450095.6:c.51-123A>C ENSP00000401956.2:n.51-123A>C
ENST00000465543.6:n.716+4A>C
ENST00000472111.5:n.511A>C
ENST00000473506.6:c.328+4A>C ENSP00000432839.2:n.328+4A>C
ENST00000473529.5:n.513+4A>C
ENST00000485531.1:n.696A>C
ENST00000487381.5:n.640A>C
ENST00000489643.6:n.283-406A>C
ENST00000554085.5:c.*121+4A>C ENSP00000450419.1:n.*121+4A>C
ENST00000554139.5:n.434A>C
ENST00000554330.5:n.418A>C
ENST00000554550.5:c.253-123A>C ENSP00000451435.1:n.253-123A>C
ENST00000554638.5:n.727A>C
ENST00000554897.5:c.253-123A>C ENSP00000450942.1:n.253-123A>C
ENST00000554944.5:n.451A>C
ENST00000555020.5:n.411A>C
ENST00000555086.5:n.381+4A>C
ENST00000555214.5:n.262-339A>C
ENST00000556157.1:n.505A>C
ENST00000556244.1:c.364+4A>C
ENST00000556278.1:c.253-406A>C ENSP00000451792.1:n.253-406A>C
ENST00000556403.5:n.483A>C
ENST00000556494.5:n.498+4A>C
ENST00000557541.5:n.521+4A>C
ENST00000557706.5:n.817A>C
NM_000155.3:c.377+4A>C NP_000146.2:n.377+4A>C
NM_001258332.1:c.51-123A>C NP_001245261.1:n.51-123A>C
NM_000155.4:c.377+4A>C MANE Select NP_000146.2:n.377+4A>C
NM_001258332.2:c.51-123A>C NP_001245261.1:n.51-123A>C