Canonical Allele Identifier: CA373280150
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647562G>A , CM000671.2:g.34647562G>A GRCh38
NC_000009.11:g.34647559G>A , CM000671.1:g.34647559G>A GRCh37
NC_000009.10:g.34637559G>A NCBI36
NG_009029.1:g.5925G>A
NG_028966.1:g.378G>A
NG_009029.2:g.5974G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.323G>A ENSP00000509954.1:p.Ser108Asn
ENST00000378842.8:c.323G>A MANE Select ENSP00000368119.4:p.Ser108Asn
ENST00000378842.7:c.323G>A ENSP00000368119.3:p.Ser108Asn
ENST00000450095.6:c.51-270G>A ENSP00000401956.2:n.51-270G>A
ENST00000465543.6:n.662G>A
ENST00000472111.5:n.364G>A
ENST00000473506.6:c.274G>A ENSP00000432839.2:p.Val92Ile
ENST00000473529.5:n.370G>A
ENST00000485531.1:n.549G>A
ENST00000487381.5:n.582G>A
ENST00000489643.6:n.282+304G>A
ENST00000554085.5:c.*67G>A ENSP00000450419.1:n.*67G>A
ENST00000554139.5:n.376G>A
ENST00000554330.5:n.271G>A
ENST00000554550.5:c.253-270G>A ENSP00000451435.1:n.253-270G>A
ENST00000554638.5:n.580G>A
ENST00000554897.5:c.253-270G>A ENSP00000450942.1:n.253-270G>A
ENST00000554944.5:n.304G>A
ENST00000555020.5:n.353G>A
ENST00000555086.5:n.327G>A
ENST00000555214.5:n.261+304G>A
ENST00000556157.1:n.447G>A
ENST00000556244.1:c.310G>A
ENST00000556278.1:c.252+304G>A ENSP00000451792.1:n.252+304G>A
ENST00000556403.5:n.336G>A
ENST00000556494.5:n.355G>A
ENST00000557541.5:n.467G>A
ENST00000557706.5:n.670G>A
NM_000155.3:c.323G>A NP_000146.2:p.Ser108Asn
NM_001258332.1:c.51-270G>A NP_001245261.1:n.51-270G>A
NM_000155.4:c.323G>A MANE Select NP_000146.2:p.Ser108Asn
NM_001258332.2:c.51-270G>A NP_001245261.1:n.51-270G>A