Canonical Allele Identifier: CA373278461

Gene: GALT

Linked Data

• ClinVar Variation Id: 2631528
• ClinVar RCV Id: RCV003404651
• MyVariant Identifiers: chr9:g.34647088C>T (hg19) ; chr9:g.34647091C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647091C>T , CM000671.2:g.34647091C>T	GRCh38
NC_000009.11:g.34647088C>T , CM000671.1:g.34647088C>T	GRCh37
NC_000009.10:g.34637088C>T	NCBI36
NG_009029.1:g.5454C>T
NG_009029.2:g.5503C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.85C>T	ENSP00000509954.1:p.His29Tyr
ENST00000378842.8:c.85C>T MANE Select	ENSP00000368119.4:p.His29Tyr
ENST00000378842.7:c.85C>T	ENSP00000368119.3:p.His29Tyr
ENST00000450095.6:c.-118C>T	ENSP00000401956.2:n.-118C>T
ENST00000465543.6:n.424C>T
ENST00000468099.2:n.155-30C>T
ENST00000472111.5:n.126C>T
ENST00000473506.6:c.85C>T	ENSP00000432839.2:p.His29Tyr
ENST00000473529.5:n.132C>T
ENST00000485531.1:n.78C>T
ENST00000487381.5:n.111C>T
ENST00000489643.6:n.115C>T
ENST00000554085.5:c.85C>T	ENSP00000450419.1:p.His29Tyr
ENST00000554139.5:n.138C>T
ENST00000554330.5:n.82C>T
ENST00000554550.5:c.85C>T	ENSP00000451435.1:p.His29Tyr
ENST00000554638.5:n.109C>T
ENST00000554897.5:c.85C>T	ENSP00000450942.1:p.His29Tyr
ENST00000554944.5:n.115C>T
ENST00000555020.5:n.115C>T
ENST00000555086.5:n.89C>T
ENST00000555214.5:n.94C>T
ENST00000556157.1:n.192C>T
ENST00000556278.1:c.85C>T	ENSP00000451792.1:p.His29Tyr
ENST00000556403.5:n.98C>T
ENST00000556494.5:n.117C>T
ENST00000557541.5:n.278C>T
ENST00000557706.5:n.199C>T
ENST00000605275.1:n.623C>T
NM_000155.3:c.85C>T	NP_000146.2:p.His29Tyr
NM_001258332.1:c.-118C>T	NP_001245261.1:n.-118C>T
NM_000155.4:c.85C>T MANE Select	NP_000146.2:p.His29Tyr
NM_001258332.2:c.-118C>T	NP_001245261.1:n.-118C>T