Canonical Allele Identifier: CA312563

Gene: GALT

Linked Data

• ClinVar Variation Id: 203734
• ClinVar RCV Id: RCV000686241 ; RCV000727565 ; RCV001276263
• dbSNP Id: rs111033674
• gnomAD v2: 9-34647692-C-T
• gnomAD v4: 9-34647695-C-T
• MyVariant Identifiers: chr9:g.34647692C>T (hg19) ; chr9:g.34647695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647695C>T , CM000671.2:g.34647695C>T	GRCh38
NC_000009.11:g.34647692C>T , CM000671.1:g.34647692C>T	GRCh37
NC_000009.10:g.34637692C>T	NCBI36
NG_009029.1:g.6058C>T
NG_028966.1:g.511C>T
NG_009029.2:g.6107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.328+128C>T	ENSP00000509954.1:n.328+128C>T
ENST00000378842.8:c.367C>T MANE Select	ENSP00000368119.4:p.Arg123Ter
ENST00000378842.7:c.367C>T	ENSP00000368119.3:p.Arg123Ter
ENST00000450095.6:c.51-137C>T	ENSP00000401956.2:n.51-137C>T
ENST00000465543.6:n.706C>T
ENST00000472111.5:n.497C>T
ENST00000473506.6:c.318C>T	ENSP00000432839.2:p.Leu106=
ENST00000473529.5:n.503C>T
ENST00000485531.1:n.682C>T
ENST00000487381.5:n.626C>T
ENST00000489643.6:n.283-420C>T
ENST00000554085.5:c.*111C>T	ENSP00000450419.1:n.*111C>T
ENST00000554139.5:n.420C>T
ENST00000554330.5:n.404C>T
ENST00000554550.5:c.253-137C>T	ENSP00000451435.1:n.253-137C>T
ENST00000554638.5:n.713C>T
ENST00000554897.5:c.253-137C>T	ENSP00000450942.1:n.253-137C>T
ENST00000554944.5:n.437C>T
ENST00000555020.5:n.397C>T
ENST00000555086.5:n.371C>T
ENST00000555214.5:n.262-353C>T
ENST00000556157.1:n.491C>T
ENST00000556244.1:c.354C>T
ENST00000556278.1:c.253-420C>T	ENSP00000451792.1:n.253-420C>T
ENST00000556403.5:n.469C>T
ENST00000556494.5:n.488C>T
ENST00000557541.5:n.511C>T
ENST00000557706.5:n.803C>T
NM_000155.3:c.367C>T	NP_000146.2:p.Arg123Ter
NM_001258332.1:c.51-137C>T	NP_001245261.1:n.51-137C>T
NM_000155.4:c.367C>T MANE Select	NP_000146.2:p.Arg123Ter
NM_001258332.2:c.51-137C>T	NP_001245261.1:n.51-137C>T