Canonical Allele Identifier: CA373280033

Gene: GALT

Linked Data

• ClinVar Variation Id: 498560
• ClinVar RCV Id: RCV000595136 ; RCV000726851
• dbSNP Id: rs1225091358
• gnomAD v3: 9-34647546-C-T
• gnomAD v4: 9-34647546-C-T
• MyVariant Identifiers: chr9:g.34647543C>T (hg19) ; chr9:g.34647546C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647546C>T , CM000671.2:g.34647546C>T	GRCh38
NC_000009.11:g.34647543C>T , CM000671.1:g.34647543C>T	GRCh37
NC_000009.10:g.34637543C>T	NCBI36
NG_009029.1:g.5909C>T
NG_028966.1:g.362C>T
NG_009029.2:g.5958C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.307C>T	ENSP00000509954.1:p.Gln103Ter
ENST00000378842.8:c.307C>T MANE Select	ENSP00000368119.4:p.Gln103Ter
ENST00000378842.7:c.307C>T	ENSP00000368119.3:p.Gln103Ter
ENST00000450095.6:c.51-286C>T	ENSP00000401956.2:n.51-286C>T
ENST00000465543.6:n.646C>T
ENST00000472111.5:n.348C>T
ENST00000473506.6:c.258C>T	ENSP00000432839.2:p.Cys86=
ENST00000473529.5:n.354C>T
ENST00000485531.1:n.533C>T
ENST00000487381.5:n.566C>T
ENST00000489643.6:n.282+288C>T
ENST00000554085.5:c.*51C>T	ENSP00000450419.1:n.*51C>T
ENST00000554139.5:n.360C>T
ENST00000554330.5:n.255C>T
ENST00000554550.5:c.253-286C>T	ENSP00000451435.1:n.253-286C>T
ENST00000554638.5:n.564C>T
ENST00000554897.5:c.253-286C>T	ENSP00000450942.1:n.253-286C>T
ENST00000554944.5:n.288C>T
ENST00000555020.5:n.337C>T
ENST00000555086.5:n.311C>T
ENST00000555214.5:n.261+288C>T
ENST00000556157.1:n.431C>T
ENST00000556244.1:c.294C>T
ENST00000556278.1:c.252+288C>T	ENSP00000451792.1:n.252+288C>T
ENST00000556403.5:n.320C>T
ENST00000556494.5:n.339C>T
ENST00000557541.5:n.451C>T
ENST00000557706.5:n.654C>T
NM_000155.3:c.307C>T	NP_000146.2:p.Gln103Ter
NM_001258332.1:c.51-286C>T	NP_001245261.1:n.51-286C>T
NM_000155.4:c.307C>T MANE Select	NP_000146.2:p.Gln103Ter
NM_001258332.2:c.51-286C>T	NP_001245261.1:n.51-286C>T