Canonical Allele Identifier: CA373282092

Gene: GALT

Linked Data

• ClinVar Variation Id: 1501873
• ClinVar RCV Id: RCV002010834
• dbSNP Id: rs2132344222
• MyVariant Identifiers: chr9:g.34648391T>G (hg19) ; chr9:g.34648394T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648394T>G , CM000671.2:g.34648394T>G	GRCh38
NC_000009.11:g.34648391T>G , CM000671.1:g.34648391T>G	GRCh37
NC_000009.10:g.34638391T>G	NCBI36
NG_009029.1:g.6757T>G
NG_028966.1:g.1210T>G
NG_009029.2:g.6806T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*213T>G	ENSP00000509954.1:n.*213T>G
ENST00000378842.8:c.625T>G MANE Select	ENSP00000368119.4:p.Tyr209Asp
ENST00000378842.7:c.625T>G	ENSP00000368119.3:p.Tyr209Asp
ENST00000450095.6:c.298T>G	ENSP00000401956.2:p.Tyr100Asp
ENST00000472111.5:n.881T>G
ENST00000473506.6:c.*213T>G	ENSP00000432839.2:n.*213T>G
ENST00000473529.5:n.784T>G
ENST00000487381.5:n.1010T>G
ENST00000489643.6:n.400T>G
ENST00000554085.5:c.*369T>G	ENSP00000450419.1:n.*369T>G
ENST00000554550.5:c.*245T>G	ENSP00000451435.1:n.*245T>G
ENST00000554638.5:n.1097T>G
ENST00000555020.5:n.781T>G
ENST00000555086.5:n.629T>G
ENST00000555214.5:n.446T>G
ENST00000556244.1:c.612T>G
ENST00000556278.1:c.370T>G	ENSP00000451792.1:p.Tyr124Asp
ENST00000556494.5:n.746T>G
ENST00000557706.5:n.1187T>G
NM_000155.3:c.625T>G	NP_000146.2:p.Tyr209Asp
NM_001258332.1:c.298T>G	NP_001245261.1:p.Tyr100Asp
NM_000155.4:c.625T>G MANE Select	NP_000146.2:p.Tyr209Asp
NM_001258332.2:c.298T>G	NP_001245261.1:p.Tyr100Asp