Canonical Allele Identifier: CA464403061

Gene: GALT

Linked Data

• dbSNP Id: rs1821176263
• MyVariant Identifiers: chr9:g.34648815A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648818A>G , CM000671.2:g.34648818A>G	GRCh38
NC_000009.11:g.34648815A>G , CM000671.1:g.34648815A>G	GRCh37
NC_000009.10:g.34638815A>G	NCBI36
NG_009029.1:g.7181A>G
NG_028966.1:g.1634A>G
NG_009029.2:g.7230A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*332A>G	ENSP00000509954.1:n.*332A>G
ENST00000378842.8:c.744A>G MANE Select	ENSP00000368119.4:p.Thr248=
ENST00000378842.7:c.744A>G	ENSP00000368119.3:p.Thr248=
ENST00000450095.6:c.417A>G	ENSP00000401956.2:p.Thr139=
ENST00000473506.6:c.*332A>G	ENSP00000432839.2:n.*332A>G
ENST00000473529.5:n.903A>G
ENST00000487381.5:n.1434A>G
ENST00000489643.6:n.824A>G
ENST00000554085.5:c.*488A>G	ENSP00000450419.1:n.*488A>G
ENST00000554550.5:c.*364A>G	ENSP00000451435.1:n.*364A>G
ENST00000554638.5:n.1216A>G
ENST00000555020.5:n.1205A>G
ENST00000555086.5:n.748A>G
ENST00000555754.1:n.89A>G
ENST00000556244.1:c.731A>G
ENST00000556278.1:c.432+362A>G	ENSP00000451792.1:n.432+362A>G
ENST00000557706.5:n.1306A>G
NM_000155.3:c.744A>G	NP_000146.2:p.Thr248=
NM_001258332.1:c.417A>G	NP_001245261.1:p.Thr139=
NM_000155.4:c.744A>G MANE Select	NP_000146.2:p.Thr248=
NM_001258332.2:c.417A>G	NP_001245261.1:p.Thr139=