Canonical Allele Identifier: CA373280320
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647670T>A , CM000671.2:g.34647670T>A GRCh38
NC_000009.11:g.34647667T>A , CM000671.1:g.34647667T>A GRCh37
NC_000009.10:g.34637667T>A NCBI36
NG_009029.1:g.6033T>A
NG_028966.1:g.486T>A
NG_009029.2:g.6082T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.328+103T>A ENSP00000509954.1:n.328+103T>A
ENST00000378842.8:c.342T>A MANE Select ENSP00000368119.4:p.His114Gln
ENST00000378842.7:c.342T>A ENSP00000368119.3:p.His114Gln
ENST00000450095.6:c.51-162T>A ENSP00000401956.2:n.51-162T>A
ENST00000465543.6:n.681T>A
ENST00000472111.5:n.472T>A
ENST00000473506.6:c.293T>A ENSP00000432839.2:p.Ile98Asn
ENST00000473529.5:n.478T>A
ENST00000485531.1:n.657T>A
ENST00000487381.5:n.601T>A
ENST00000489643.6:n.282+412T>A
ENST00000554085.5:c.*86T>A ENSP00000450419.1:n.*86T>A
ENST00000554139.5:n.395T>A
ENST00000554330.5:n.379T>A
ENST00000554550.5:c.253-162T>A ENSP00000451435.1:n.253-162T>A
ENST00000554638.5:n.688T>A
ENST00000554897.5:c.253-162T>A ENSP00000450942.1:n.253-162T>A
ENST00000554944.5:n.412T>A
ENST00000555020.5:n.372T>A
ENST00000555086.5:n.346T>A
ENST00000555214.5:n.262-378T>A
ENST00000556157.1:n.466T>A
ENST00000556244.1:c.329T>A
ENST00000556278.1:c.252+412T>A ENSP00000451792.1:n.252+412T>A
ENST00000556403.5:n.444T>A
ENST00000556494.5:n.463T>A
ENST00000557541.5:n.486T>A
ENST00000557706.5:n.778T>A
NM_000155.3:c.342T>A NP_000146.2:p.His114Gln
NM_001258332.1:c.51-162T>A NP_001245261.1:n.51-162T>A
NM_000155.4:c.342T>A MANE Select NP_000146.2:p.His114Gln
NM_001258332.2:c.51-162T>A NP_001245261.1:n.51-162T>A