Canonical Allele Identifier: CA373280113

Gene: GALT

Linked Data

• dbSNP Id: rs1821137298
• gnomAD v4: 9-34647556-C-T
• MyVariant Identifiers: chr9:g.34647553C>T (hg19) ; chr9:g.34647556C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647556C>T , CM000671.2:g.34647556C>T	GRCh38
NC_000009.11:g.34647553C>T , CM000671.1:g.34647553C>T	GRCh37
NC_000009.10:g.34637553C>T	NCBI36
NG_009029.1:g.5919C>T
NG_028966.1:g.372C>T
NG_009029.2:g.5968C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.317C>T	ENSP00000509954.1:p.Ala106Val
ENST00000378842.8:c.317C>T MANE Select	ENSP00000368119.4:p.Ala106Val
ENST00000378842.7:c.317C>T	ENSP00000368119.3:p.Ala106Val
ENST00000450095.6:c.51-276C>T	ENSP00000401956.2:n.51-276C>T
ENST00000465543.6:n.656C>T
ENST00000472111.5:n.358C>T
ENST00000473506.6:c.268C>T	ENSP00000432839.2:p.Pro90Ser
ENST00000473529.5:n.364C>T
ENST00000485531.1:n.543C>T
ENST00000487381.5:n.576C>T
ENST00000489643.6:n.282+298C>T
ENST00000554085.5:c.*61C>T	ENSP00000450419.1:n.*61C>T
ENST00000554139.5:n.370C>T
ENST00000554330.5:n.265C>T
ENST00000554550.5:c.253-276C>T	ENSP00000451435.1:n.253-276C>T
ENST00000554638.5:n.574C>T
ENST00000554897.5:c.253-276C>T	ENSP00000450942.1:n.253-276C>T
ENST00000554944.5:n.298C>T
ENST00000555020.5:n.347C>T
ENST00000555086.5:n.321C>T
ENST00000555214.5:n.261+298C>T
ENST00000556157.1:n.441C>T
ENST00000556244.1:c.304C>T
ENST00000556278.1:c.252+298C>T	ENSP00000451792.1:n.252+298C>T
ENST00000556403.5:n.330C>T
ENST00000556494.5:n.349C>T
ENST00000557541.5:n.461C>T
ENST00000557706.5:n.664C>T
NM_000155.3:c.317C>T	NP_000146.2:p.Ala106Val
NM_001258332.1:c.51-276C>T	NP_001245261.1:n.51-276C>T
NM_000155.4:c.317C>T MANE Select	NP_000146.2:p.Ala106Val
NM_001258332.2:c.51-276C>T	NP_001245261.1:n.51-276C>T