Canonical Allele Identifier: CA16041307

Gene: GALT

Linked Data

• ClinVar Variation Id: 370724
• ClinVar RCV Id: RCV000409965
• dbSNP Id: rs1057516720
• MyVariant Identifiers: chr9:g.34648393T>A (hg19) ; chr9:g.34648396T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648396T>A , CM000671.2:g.34648396T>A	GRCh38
NC_000009.11:g.34648393T>A , CM000671.1:g.34648393T>A	GRCh37
NC_000009.10:g.34638393T>A	NCBI36
NG_009029.1:g.6759T>A
NG_028966.1:g.1212T>A
NG_009029.2:g.6808T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*215T>A	ENSP00000509954.1:n.*215T>A
ENST00000378842.8:c.627T>A MANE Select	ENSP00000368119.4:p.Tyr209Ter
ENST00000378842.7:c.627T>A	ENSP00000368119.3:p.Tyr209Ter
ENST00000450095.6:c.300T>A	ENSP00000401956.2:p.Tyr100Ter
ENST00000472111.5:n.883T>A
ENST00000473506.6:c.*215T>A	ENSP00000432839.2:n.*215T>A
ENST00000473529.5:n.786T>A
ENST00000487381.5:n.1012T>A
ENST00000489643.6:n.402T>A
ENST00000554085.5:c.*371T>A	ENSP00000450419.1:n.*371T>A
ENST00000554550.5:c.*247T>A	ENSP00000451435.1:n.*247T>A
ENST00000554638.5:n.1099T>A
ENST00000555020.5:n.783T>A
ENST00000555086.5:n.631T>A
ENST00000555214.5:n.448T>A
ENST00000556244.1:c.614T>A
ENST00000556278.1:c.372T>A	ENSP00000451792.1:p.Tyr124Ter
ENST00000556494.5:n.748T>A
ENST00000557706.5:n.1189T>A
NM_000155.3:c.627T>A	NP_000146.2:p.Tyr209Ter
NM_001258332.1:c.300T>A	NP_001245261.1:p.Tyr100Ter
NM_000155.4:c.627T>A MANE Select	NP_000146.2:p.Tyr209Ter
NM_001258332.2:c.300T>A	NP_001245261.1:p.Tyr100Ter