Canonical Allele Identifier: CA373281984

Gene: GALT

Linked Data

• gnomAD v4: 9-34648369-G-T
• MyVariant Identifiers: chr9:g.34648366G>T (hg19) ; chr9:g.34648369G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648369G>T , CM000671.2:g.34648369G>T	GRCh38
NC_000009.11:g.34648366G>T , CM000671.1:g.34648366G>T	GRCh37
NC_000009.10:g.34638366G>T	NCBI36
NG_009029.1:g.6732G>T
NG_028966.1:g.1185G>T
NG_009029.2:g.6781G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*188G>T	ENSP00000509954.1:n.*188G>T
ENST00000378842.8:c.600G>T MANE Select	ENSP00000368119.4:p.Gln200His
ENST00000378842.7:c.600G>T	ENSP00000368119.3:p.Gln200His
ENST00000450095.6:c.273G>T	ENSP00000401956.2:p.Gln91His
ENST00000472111.5:n.856G>T
ENST00000473506.6:c.*188G>T	ENSP00000432839.2:n.*188G>T
ENST00000473529.5:n.759G>T
ENST00000485531.1:n.1194G>T
ENST00000487381.5:n.985G>T
ENST00000489643.6:n.375G>T
ENST00000554085.5:c.*344G>T	ENSP00000450419.1:n.*344G>T
ENST00000554139.5:n.846G>T
ENST00000554550.5:c.*220G>T	ENSP00000451435.1:n.*220G>T
ENST00000554638.5:n.1072G>T
ENST00000554897.5:c.*287G>T	ENSP00000450942.1:n.*287G>T
ENST00000554944.5:n.949G>T
ENST00000555020.5:n.756G>T
ENST00000555086.5:n.604G>T
ENST00000555214.5:n.421G>T
ENST00000556244.1:c.587G>T
ENST00000556278.1:c.345G>T	ENSP00000451792.1:p.Gln115His
ENST00000556494.5:n.721G>T
ENST00000557706.5:n.1162G>T
NM_000155.3:c.600G>T	NP_000146.2:p.Gln200His
NM_001258332.1:c.273G>T	NP_001245261.1:p.Gln91His
NM_000155.4:c.600G>T MANE Select	NP_000146.2:p.Gln200His
NM_001258332.2:c.273G>T	NP_001245261.1:p.Gln91His