Canonical Allele Identifier: CA5036037

Gene: GALT

Linked Data

• ClinVar Variation Id: 2161464
• ClinVar RCV Id: RCV003089511
• dbSNP Id: rs528320335
• ExAC: 9:34647213 T / A
• gnomAD v2: 9-34647213-T-A
• gnomAD v4: 9-34647216-T-A
• MyVariant Identifiers: chr9:g.34647213T>A (hg19) ; chr9:g.34647216T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647216T>A , CM000671.2:g.34647216T>A	GRCh38
NC_000009.11:g.34647213T>A , CM000671.1:g.34647213T>A	GRCh37
NC_000009.10:g.34637213T>A	NCBI36
NG_009029.1:g.5579T>A
NG_028966.1:g.32T>A
NG_009029.2:g.5628T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.210T>A	ENSP00000509954.1:p.Pro70=
ENST00000378842.8:c.210T>A MANE Select	ENSP00000368119.4:p.Pro70=
ENST00000378842.7:c.210T>A	ENSP00000368119.3:p.Pro70=
ENST00000450095.6:c.8T>A	ENSP00000401956.2:p.Leu3His
ENST00000465543.6:n.549T>A
ENST00000468099.2:n.250T>A
ENST00000472111.5:n.251T>A
ENST00000473506.6:c.210T>A	ENSP00000432839.2:p.Pro70=
ENST00000473529.5:n.257T>A
ENST00000485531.1:n.203T>A
ENST00000487381.5:n.236T>A
ENST00000489643.6:n.240T>A
ENST00000554085.5:c.210T>A	ENSP00000450419.1:p.Pro70=
ENST00000554139.5:n.263T>A
ENST00000554330.5:n.207T>A
ENST00000554550.5:c.210T>A	ENSP00000451435.1:p.Pro70=
ENST00000554638.5:n.234T>A
ENST00000554897.5:c.210T>A	ENSP00000450942.1:p.Pro70=
ENST00000554944.5:n.240T>A
ENST00000555020.5:n.240T>A
ENST00000555086.5:n.214T>A
ENST00000555214.5:n.219T>A
ENST00000556157.1:n.317T>A
ENST00000556244.1:c.94T>A
ENST00000556278.1:c.210T>A	ENSP00000451792.1:p.Pro70=
ENST00000556403.5:n.223T>A
ENST00000556494.5:n.242T>A
ENST00000557541.5:n.403T>A
ENST00000557706.5:n.324T>A
NM_000155.3:c.210T>A	NP_000146.2:p.Pro70=
NM_001258332.1:c.8T>A	NP_001245261.1:p.Leu3His
NM_000155.4:c.210T>A MANE Select	NP_000146.2:p.Pro70=
NM_001258332.2:c.8T>A	NP_001245261.1:p.Leu3His