Canonical Allele Identifier: CA373280444

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647698G>T (hg19) ; chr9:g.34647701G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647701G>T , CM000671.2:g.34647701G>T	GRCh38
NC_000009.11:g.34647698G>T , CM000671.1:g.34647698G>T	GRCh37
NC_000009.10:g.34637698G>T	NCBI36
NG_009029.1:g.6064G>T
NG_028966.1:g.517G>T
NG_009029.2:g.6113G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.329-131G>T	ENSP00000509954.1:n.329-131G>T
ENST00000378842.8:c.373G>T MANE Select	ENSP00000368119.4:p.Val125Phe
ENST00000378842.7:c.373G>T	ENSP00000368119.3:p.Val125Phe
ENST00000450095.6:c.51-131G>T	ENSP00000401956.2:n.51-131G>T
ENST00000465543.6:n.712G>T
ENST00000472111.5:n.503G>T
ENST00000473506.6:c.324G>T	ENSP00000432839.2:p.Glu108Asp
ENST00000473529.5:n.509G>T
ENST00000485531.1:n.688G>T
ENST00000487381.5:n.632G>T
ENST00000489643.6:n.283-414G>T
ENST00000554085.5:c.*117G>T	ENSP00000450419.1:n.*117G>T
ENST00000554139.5:n.426G>T
ENST00000554330.5:n.410G>T
ENST00000554550.5:c.253-131G>T	ENSP00000451435.1:n.253-131G>T
ENST00000554638.5:n.719G>T
ENST00000554897.5:c.253-131G>T	ENSP00000450942.1:n.253-131G>T
ENST00000554944.5:n.443G>T
ENST00000555020.5:n.403G>T
ENST00000555086.5:n.377G>T
ENST00000555214.5:n.262-347G>T
ENST00000556157.1:n.497G>T
ENST00000556244.1:c.360G>T
ENST00000556278.1:c.253-414G>T	ENSP00000451792.1:n.253-414G>T
ENST00000556403.5:n.475G>T
ENST00000556494.5:n.494G>T
ENST00000557541.5:n.517G>T
ENST00000557706.5:n.809G>T
NM_000155.3:c.373G>T	NP_000146.2:p.Val125Phe
NM_001258332.1:c.51-131G>T	NP_001245261.1:n.51-131G>T
NM_000155.4:c.373G>T MANE Select	NP_000146.2:p.Val125Phe
NM_001258332.2:c.51-131G>T	NP_001245261.1:n.51-131G>T