Canonical Allele Identifier: CA373281738
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648173T>C , CM000671.2:g.34648173T>C GRCh38
NC_000009.11:g.34648170T>C , CM000671.1:g.34648170T>C GRCh37
NC_000009.10:g.34638170T>C NCBI36
NG_009029.1:g.6536T>C
NG_028966.1:g.989T>C
NG_009029.2:g.6585T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*152+2T>C ENSP00000509954.1:n.*152+2T>C
ENST00000378842.8:c.564+2T>C MANE Select ENSP00000368119.4:n.564+2T>C
ENST00000378842.7:c.564+2T>C ENSP00000368119.3:n.564+2T>C
ENST00000450095.6:c.237+2T>C ENSP00000401956.2:n.237+2T>C
ENST00000472111.5:n.820+2T>C
ENST00000473506.6:c.*152+2T>C ENSP00000432839.2:n.*152+2T>C
ENST00000473529.5:n.723+2T>C
ENST00000485531.1:n.1158+2T>C
ENST00000487381.5:n.949+2T>C
ENST00000489643.6:n.339+2T>C
ENST00000554085.5:c.*308+2T>C ENSP00000450419.1:n.*308+2T>C
ENST00000554139.5:n.810+2T>C
ENST00000554550.5:c.*184+2T>C ENSP00000451435.1:n.*184+2T>C
ENST00000554638.5:n.1036+2T>C
ENST00000554897.5:c.*251+2T>C ENSP00000450942.1:n.*251+2T>C
ENST00000554944.5:n.913+2T>C
ENST00000555020.5:n.720+2T>C
ENST00000555086.5:n.568+2T>C
ENST00000555214.5:n.385+2T>C
ENST00000556244.1:c.551+2T>C
ENST00000556278.1:c.309+2T>C ENSP00000451792.1:n.309+2T>C
ENST00000556494.5:n.685+2T>C
ENST00000557706.5:n.1126+2T>C
NM_000155.3:c.564+2T>C NP_000146.2:n.564+2T>C
NM_001258332.1:c.237+2T>C NP_001245261.1:n.237+2T>C
NM_000155.4:c.564+2T>C MANE Select NP_000146.2:n.564+2T>C
NM_001258332.2:c.237+2T>C NP_001245261.1:n.237+2T>C