Canonical Allele Identifier: CA259330

Gene: GALT

Linked Data

• ClinVar Variation Id: 1470556
• ClinVar RCV Id: RCV001964239
• dbSNP Id: rs111033648
• gnomAD v4: 9-34647158-G-T
• MyVariant Identifiers: chr9:g.34647155G>T (hg19) ; chr9:g.34647158G>T (hg38)
• PubMed: PMID:10408771

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647158G>T , CM000671.2:g.34647158G>T	GRCh38
NC_000009.11:g.34647155G>T , CM000671.1:g.34647155G>T	GRCh37
NC_000009.10:g.34637155G>T	NCBI36
NG_009029.1:g.5521G>T
NG_009029.2:g.5570G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.152G>T	ENSP00000509954.1:p.Arg51Leu
ENST00000378842.8:c.152G>T MANE Select	ENSP00000368119.4:p.Arg51Leu
ENST00000378842.7:c.152G>T	ENSP00000368119.3:p.Arg51Leu
ENST00000450095.6:c.-51G>T	ENSP00000401956.2:n.-51G>T
ENST00000465543.6:n.491G>T
ENST00000468099.2:n.192G>T
ENST00000472111.5:n.193G>T
ENST00000473506.6:c.152G>T	ENSP00000432839.2:p.Arg51Leu
ENST00000473529.5:n.199G>T
ENST00000485531.1:n.145G>T
ENST00000487381.5:n.178G>T
ENST00000489643.6:n.182G>T
ENST00000554085.5:c.152G>T	ENSP00000450419.1:p.Arg51Leu
ENST00000554139.5:n.205G>T
ENST00000554330.5:n.149G>T
ENST00000554550.5:c.152G>T	ENSP00000451435.1:p.Arg51Leu
ENST00000554638.5:n.176G>T
ENST00000554897.5:c.152G>T	ENSP00000450942.1:p.Arg51Leu
ENST00000554944.5:n.182G>T
ENST00000555020.5:n.182G>T
ENST00000555086.5:n.156G>T
ENST00000555214.5:n.161G>T
ENST00000556157.1:n.259G>T
ENST00000556244.1:c.36G>T
ENST00000556278.1:c.152G>T	ENSP00000451792.1:p.Arg51Leu
ENST00000556403.5:n.165G>T
ENST00000556494.5:n.184G>T
ENST00000557541.5:n.345G>T
ENST00000557706.5:n.266G>T
NM_000155.3:c.152G>T	NP_000146.2:p.Arg51Leu
NM_001258332.1:c.-51G>T	NP_001245261.1:n.-51G>T
NM_000155.4:c.152G>T MANE Select	NP_000146.2:p.Arg51Leu
NM_001258332.2:c.-51G>T	NP_001245261.1:n.-51G>T