Canonical Allele Identifier: CA464402229

Gene: GALT

Linked Data

• ClinVar Variation Id: 1122539
• ClinVar RCV Id: RCV001453215
• dbSNP Id: rs1821165725
• MyVariant Identifiers: chr9:g.34648408A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648411A>G , CM000671.2:g.34648411A>G	GRCh38
NC_000009.11:g.34648408A>G , CM000671.1:g.34648408A>G	GRCh37
NC_000009.10:g.34638408A>G	NCBI36
NG_009029.1:g.6774A>G
NG_028966.1:g.1227A>G
NG_009029.2:g.6823A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*230A>G	ENSP00000509954.1:n.*230A>G
ENST00000378842.8:c.642A>G MANE Select	ENSP00000368119.4:p.Gly214=
ENST00000378842.7:c.642A>G	ENSP00000368119.3:p.Gly214=
ENST00000450095.6:c.315A>G	ENSP00000401956.2:p.Gly105=
ENST00000472111.5:n.898A>G
ENST00000473506.6:c.*230A>G	ENSP00000432839.2:n.*230A>G
ENST00000473529.5:n.801A>G
ENST00000487381.5:n.1027A>G
ENST00000489643.6:n.417A>G
ENST00000554085.5:c.*386A>G	ENSP00000450419.1:n.*386A>G
ENST00000554550.5:c.*262A>G	ENSP00000451435.1:n.*262A>G
ENST00000554638.5:n.1114A>G
ENST00000555020.5:n.798A>G
ENST00000555086.5:n.646A>G
ENST00000555214.5:n.463A>G
ENST00000556244.1:c.629A>G
ENST00000556278.1:c.387A>G	ENSP00000451792.1:p.Gly129=
ENST00000556494.5:n.763A>G
ENST00000557706.5:n.1204A>G
NM_000155.3:c.642A>G	NP_000146.2:p.Gly214=
NM_001258332.1:c.315A>G	NP_001245261.1:p.Gly105=
NM_000155.4:c.642A>G MANE Select	NP_000146.2:p.Gly214=
NM_001258332.2:c.315A>G	NP_001245261.1:p.Gly105=