Canonical Allele Identifier: CA2689808539
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34647040-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647040A>C , CM000671.2:g.34647040A>C GRCh38
NC_000009.11:g.34647037A>C , CM000671.1:g.34647037A>C GRCh37
NC_000009.10:g.34637037A>C NCBI36
NG_009029.1:g.5403A>C
NG_009029.2:g.5452A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.83-49A>C ENSP00000509954.1:n.83-49A>C
ENST00000378842.8:c.83-49A>C MANE Select ENSP00000368119.4:n.83-49A>C
ENST00000378842.7:c.83-49A>C ENSP00000368119.3:n.83-49A>C
ENST00000450095.6:c.-120-49A>C ENSP00000401956.2:n.-120-49A>C
ENST00000465543.6:n.373A>C
ENST00000468099.2:n.155-81A>C
ENST00000472111.5:n.124-49A>C
ENST00000473506.6:c.83-49A>C ENSP00000432839.2:n.83-49A>C
ENST00000473529.5:n.130-49A>C
ENST00000485531.1:n.76-49A>C
ENST00000487381.5:n.109-49A>C
ENST00000489643.6:n.113-49A>C
ENST00000554085.5:c.83-49A>C ENSP00000450419.1:n.83-49A>C
ENST00000554139.5:n.136-49A>C
ENST00000554330.5:n.80-49A>C
ENST00000554550.5:c.83-49A>C ENSP00000451435.1:n.83-49A>C
ENST00000554638.5:n.107-49A>C
ENST00000554897.5:c.83-49A>C ENSP00000450942.1:n.83-49A>C
ENST00000554944.5:n.113-49A>C
ENST00000555020.5:n.113-49A>C
ENST00000555086.5:n.87-49A>C
ENST00000555214.5:n.92-49A>C
ENST00000556157.1:n.141A>C
ENST00000556278.1:c.83-49A>C ENSP00000451792.1:n.83-49A>C
ENST00000556403.5:n.96-49A>C
ENST00000556494.5:n.115-49A>C
ENST00000557541.5:n.276-49A>C
ENST00000557706.5:n.148A>C
ENST00000605275.1:n.572A>C
NM_000155.3:c.83-49A>C NP_000146.2:n.83-49A>C
NM_001258332.1:c.-120-49A>C NP_001245261.1:n.-120-49A>C
NM_000155.4:c.83-49A>C MANE Select NP_000146.2:n.83-49A>C
NM_001258332.2:c.-120-49A>C NP_001245261.1:n.-120-49A>C