Canonical Allele Identifier: CA373281640

Gene: GALT

Linked Data

• ClinVar Variation Id: 858291
• ClinVar RCV Id: RCV001064137 ; RCV001276271
• dbSNP Id: rs111033716
• gnomAD v4: 9-34648157-C-T
• MyVariant Identifiers: chr9:g.34648154C>T (hg19) ; chr9:g.34648157C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648157C>T , CM000671.2:g.34648157C>T	GRCh38
NC_000009.11:g.34648154C>T , CM000671.1:g.34648154C>T	GRCh37
NC_000009.10:g.34638154C>T	NCBI36
NG_009029.1:g.6520C>T
NG_028966.1:g.973C>T
NG_009029.2:g.6569C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*138C>T	ENSP00000509954.1:n.*138C>T
ENST00000378842.8:c.550C>T MANE Select	ENSP00000368119.4:p.His184Tyr
ENST00000378842.7:c.550C>T	ENSP00000368119.3:p.His184Tyr
ENST00000450095.6:c.223C>T	ENSP00000401956.2:p.His75Tyr
ENST00000465543.6:n.889C>T
ENST00000472111.5:n.806C>T
ENST00000473506.6:c.*138C>T	ENSP00000432839.2:n.*138C>T
ENST00000473529.5:n.709C>T
ENST00000485531.1:n.1144C>T
ENST00000487381.5:n.935C>T
ENST00000489643.6:n.325C>T
ENST00000554085.5:c.*294C>T	ENSP00000450419.1:n.*294C>T
ENST00000554139.5:n.796C>T
ENST00000554550.5:c.*170C>T	ENSP00000451435.1:n.*170C>T
ENST00000554638.5:n.1022C>T
ENST00000554897.5:c.*237C>T	ENSP00000450942.1:n.*237C>T
ENST00000554944.5:n.899C>T
ENST00000555020.5:n.706C>T
ENST00000555086.5:n.554C>T
ENST00000555214.5:n.371C>T
ENST00000556244.1:c.537C>T
ENST00000556278.1:c.295C>T	ENSP00000451792.1:p.His99Tyr
ENST00000556494.5:n.671C>T
ENST00000557706.5:n.1112C>T
NM_000155.3:c.550C>T	NP_000146.2:p.His184Tyr
NM_001258332.1:c.223C>T	NP_001245261.1:p.His75Tyr
NM_000155.4:c.550C>T MANE Select	NP_000146.2:p.His184Tyr
NM_001258332.2:c.223C>T	NP_001245261.1:p.His75Tyr