Canonical Allele Identifier: CA373284796
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649446A>T , CM000671.2:g.34649446A>T GRCh38
NC_000009.11:g.34649443A>T , CM000671.1:g.34649443A>T GRCh37
NC_000009.10:g.34639443A>T NCBI36
NG_009029.1:g.7809A>T
NG_028966.1:g.2262A>T
NG_009029.2:g.7858A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*529A>T ENSP00000509954.1:n.*529A>T
ENST00000378842.8:c.941A>T MANE Select ENSP00000368119.4:p.Asn314Ile
ENST00000378842.7:c.941A>T ENSP00000368119.3:p.Asn314Ile
ENST00000450095.6:c.614A>T ENSP00000401956.2:p.Asn205Ile
ENST00000488412.2:n.525A>T
ENST00000489643.6:n.1349A>T
ENST00000554550.5:c.*561A>T ENSP00000451435.1:n.*561A>T
ENST00000554638.5:n.1413A>T
ENST00000555020.5:n.1730A>T
ENST00000555754.1:n.389A>T
ENST00000556278.1:c.432+990A>T ENSP00000451792.1:n.432+990A>T
ENST00000557706.5:n.1516A>T
NM_000155.3:c.941A>T NP_000146.2:p.Asn314Ile
NM_001258332.1:c.614A>T NP_001245261.1:p.Asn205Ile
NM_000155.4:c.941A>T MANE Select NP_000146.2:p.Asn314Ile
NM_001258332.2:c.614A>T NP_001245261.1:p.Asn205Ile