Canonical Allele Identifier: CA373282250

Gene: GALT

Linked Data

• dbSNP Id: rs1587239399
• MyVariant Identifiers: chr9:g.34648422T>G (hg19) ; chr9:g.34648425T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648425T>G , CM000671.2:g.34648425T>G	GRCh38
NC_000009.11:g.34648422T>G , CM000671.1:g.34648422T>G	GRCh37
NC_000009.10:g.34638422T>G	NCBI36
NG_009029.1:g.6788T>G
NG_028966.1:g.1241T>G
NG_009029.2:g.6837T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*244T>G	ENSP00000509954.1:n.*244T>G
ENST00000378842.8:c.656T>G MANE Select	ENSP00000368119.4:p.Met219Arg
ENST00000378842.7:c.656T>G	ENSP00000368119.3:p.Met219Arg
ENST00000450095.6:c.329T>G	ENSP00000401956.2:p.Met110Arg
ENST00000472111.5:n.912T>G
ENST00000473506.6:c.*244T>G	ENSP00000432839.2:n.*244T>G
ENST00000473529.5:n.815T>G
ENST00000487381.5:n.1041T>G
ENST00000489643.6:n.431T>G
ENST00000554085.5:c.*400T>G	ENSP00000450419.1:n.*400T>G
ENST00000554550.5:c.*276T>G	ENSP00000451435.1:n.*276T>G
ENST00000554638.5:n.1128T>G
ENST00000555020.5:n.812T>G
ENST00000555086.5:n.660T>G
ENST00000555214.5:n.477T>G
ENST00000555754.1:n.1T>G
ENST00000556244.1:c.643T>G
ENST00000556278.1:c.401T>G	ENSP00000451792.1:p.Met134Arg
ENST00000556494.5:n.777T>G
ENST00000557706.5:n.1218T>G
NM_000155.3:c.656T>G	NP_000146.2:p.Met219Arg
NM_001258332.1:c.329T>G	NP_001245261.1:p.Met110Arg
NM_000155.4:c.656T>G MANE Select	NP_000146.2:p.Met219Arg
NM_001258332.2:c.329T>G	NP_001245261.1:p.Met110Arg