Canonical Allele Identifier: CA1845639647
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648801G= , CM000671.2:g.34648801G= GRCh38
NC_000009.11:g.34648798G= , CM000671.1:g.34648798G= GRCh37
NC_000009.10:g.34638798G= NCBI36
NG_009029.1:g.7164G=
NG_028966.1:g.1617G=
NG_009029.2:g.7213G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*315G= ENSP00000509954.1:n.*315G=
ENST00000378842.8:c.727G= MANE Select ENSP00000368119.4:p.Val243=
ENST00000378842.7:c.727G= ENSP00000368119.3:p.Val243=
ENST00000450095.6:c.400G= ENSP00000401956.2:p.Val134=
ENST00000473506.6:c.*315G= ENSP00000432839.2:n.*315G=
ENST00000473529.5:n.886G=
ENST00000487381.5:n.1417G=
ENST00000489643.6:n.807G=
ENST00000554085.5:c.*471G= ENSP00000450419.1:n.*471G=
ENST00000554550.5:c.*347G= ENSP00000451435.1:n.*347G=
ENST00000554638.5:n.1199G=
ENST00000555020.5:n.1188G=
ENST00000555086.5:n.731G=
ENST00000555754.1:n.72G=
ENST00000556244.1:c.714G=
ENST00000556278.1:c.432+345G= ENSP00000451792.1:n.432+345G=
ENST00000557706.5:n.1289G=
NM_000155.3:c.727G= NP_000146.2:p.Val243=
NM_001258332.1:c.400G= NP_001245261.1:p.Val134=
NM_000155.4:c.727G= MANE Select NP_000146.2:p.Val243=
NM_001258332.2:c.400G= NP_001245261.1:p.Val134=