Canonical Allele Identifier: CA5036179

Gene: GALT

Linked Data

• dbSNP Id: rs753958275
• ExAC: 9:34648420 A / G
• gnomAD v2: 9-34648420-A-G
• gnomAD v4: 9-34648423-A-G
• MyVariant Identifiers: chr9:g.34648420A>G (hg19) ; chr9:g.34648423A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648423A>G , CM000671.2:g.34648423A>G	GRCh38
NC_000009.11:g.34648420A>G , CM000671.1:g.34648420A>G	GRCh37
NC_000009.10:g.34638420A>G	NCBI36
NG_009029.1:g.6786A>G
NG_028966.1:g.1239A>G
NG_009029.2:g.6835A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*242A>G	ENSP00000509954.1:n.*242A>G
ENST00000378842.8:c.654A>G MANE Select	ENSP00000368119.4:p.Leu218=
ENST00000378842.7:c.654A>G	ENSP00000368119.3:p.Leu218=
ENST00000450095.6:c.327A>G	ENSP00000401956.2:p.Leu109=
ENST00000472111.5:n.910A>G
ENST00000473506.6:c.*242A>G	ENSP00000432839.2:n.*242A>G
ENST00000473529.5:n.813A>G
ENST00000487381.5:n.1039A>G
ENST00000489643.6:n.429A>G
ENST00000554085.5:c.*398A>G	ENSP00000450419.1:n.*398A>G
ENST00000554550.5:c.*274A>G	ENSP00000451435.1:n.*274A>G
ENST00000554638.5:n.1126A>G
ENST00000555020.5:n.810A>G
ENST00000555086.5:n.658A>G
ENST00000555214.5:n.475A>G
ENST00000556244.1:c.641A>G
ENST00000556278.1:c.399A>G	ENSP00000451792.1:p.Leu133=
ENST00000556494.5:n.775A>G
ENST00000557706.5:n.1216A>G
NM_000155.3:c.654A>G	NP_000146.2:p.Leu218=
NM_001258332.1:c.327A>G	NP_001245261.1:p.Leu109=
NM_000155.4:c.654A>G MANE Select	NP_000146.2:p.Leu218=
NM_001258332.2:c.327A>G	NP_001245261.1:p.Leu109=