Canonical Allele Identifier: CA464401898

Gene: GALT

Linked Data

• ClinVar Variation Id: 2866632
• ClinVar RCV Id: RCV003610515
• MyVariant Identifiers: chr9:g.34648162C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648165C>T , CM000671.2:g.34648165C>T	GRCh38
NC_000009.11:g.34648162C>T , CM000671.1:g.34648162C>T	GRCh37
NC_000009.10:g.34638162C>T	NCBI36
NG_009029.1:g.6528C>T
NG_028966.1:g.981C>T
NG_009029.2:g.6577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*146C>T	ENSP00000509954.1:n.*146C>T
ENST00000378842.8:c.558C>T MANE Select	ENSP00000368119.4:p.His186=
ENST00000378842.7:c.558C>T	ENSP00000368119.3:p.His186=
ENST00000450095.6:c.231C>T	ENSP00000401956.2:p.His77=
ENST00000465543.6:n.897C>T
ENST00000472111.5:n.814C>T
ENST00000473506.6:c.*146C>T	ENSP00000432839.2:n.*146C>T
ENST00000473529.5:n.717C>T
ENST00000485531.1:n.1152C>T
ENST00000487381.5:n.943C>T
ENST00000489643.6:n.333C>T
ENST00000554085.5:c.*302C>T	ENSP00000450419.1:n.*302C>T
ENST00000554139.5:n.804C>T
ENST00000554550.5:c.*178C>T	ENSP00000451435.1:n.*178C>T
ENST00000554638.5:n.1030C>T
ENST00000554897.5:c.*245C>T	ENSP00000450942.1:n.*245C>T
ENST00000554944.5:n.907C>T
ENST00000555020.5:n.714C>T
ENST00000555086.5:n.562C>T
ENST00000555214.5:n.379C>T
ENST00000556244.1:c.545C>T
ENST00000556278.1:c.303C>T	ENSP00000451792.1:p.His101=
ENST00000556494.5:n.679C>T
ENST00000557706.5:n.1120C>T
NM_000155.3:c.558C>T	NP_000146.2:p.His186=
NM_001258332.1:c.231C>T	NP_001245261.1:p.His77=
NM_000155.4:c.558C>T MANE Select	NP_000146.2:p.His186=
NM_001258332.2:c.231C>T	NP_001245261.1:p.His77=