Canonical Allele Identifier: CA192670117

Gene: GALT

Linked Data

• dbSNP Id: rs368787765
• gnomAD v4: 9-34648351-C-T
• MyVariant Identifiers: chr9:g.34648348C>T (hg19) ; chr9:g.34648351C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648351C>T , CM000671.2:g.34648351C>T	GRCh38
NC_000009.11:g.34648348C>T , CM000671.1:g.34648348C>T	GRCh37
NC_000009.10:g.34638348C>T	NCBI36
NG_009029.1:g.6714C>T
NG_028966.1:g.1167C>T
NG_009029.2:g.6763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*170C>T	ENSP00000509954.1:n.*170C>T
ENST00000378842.8:c.582C>T MANE Select	ENSP00000368119.4:p.Phe194=
ENST00000378842.7:c.582C>T	ENSP00000368119.3:p.Phe194=
ENST00000450095.6:c.255C>T	ENSP00000401956.2:p.Phe85=
ENST00000472111.5:n.838C>T
ENST00000473506.6:c.*170C>T	ENSP00000432839.2:n.*170C>T
ENST00000473529.5:n.741C>T
ENST00000485531.1:n.1176C>T
ENST00000487381.5:n.967C>T
ENST00000489643.6:n.357C>T
ENST00000554085.5:c.*326C>T	ENSP00000450419.1:n.*326C>T
ENST00000554139.5:n.828C>T
ENST00000554550.5:c.*202C>T	ENSP00000451435.1:n.*202C>T
ENST00000554638.5:n.1054C>T
ENST00000554897.5:c.*269C>T	ENSP00000450942.1:n.*269C>T
ENST00000554944.5:n.931C>T
ENST00000555020.5:n.738C>T
ENST00000555086.5:n.586C>T
ENST00000555214.5:n.403C>T
ENST00000556244.1:c.569C>T
ENST00000556278.1:c.327C>T	ENSP00000451792.1:p.Phe109=
ENST00000556494.5:n.703C>T
ENST00000557706.5:n.1144C>T
NM_000155.3:c.582C>T	NP_000146.2:p.Phe194=
NM_001258332.1:c.255C>T	NP_001245261.1:p.Phe85=
NM_000155.4:c.582C>T MANE Select	NP_000146.2:p.Phe194=
NM_001258332.2:c.255C>T	NP_001245261.1:p.Phe85=