Canonical Allele Identifier: CA464403131

Gene: GALT

Linked Data

• dbSNP Id: rs1821177218
• MyVariant Identifiers: chr9:g.34648834C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648837C>T , CM000671.2:g.34648837C>T	GRCh38
NC_000009.11:g.34648834C>T , CM000671.1:g.34648834C>T	GRCh37
NC_000009.10:g.34638834C>T	NCBI36
NG_009029.1:g.7200C>T
NG_028966.1:g.1653C>T
NG_009029.2:g.7249C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*351C>T	ENSP00000509954.1:n.*351C>T
ENST00000378842.8:c.763C>T MANE Select	ENSP00000368119.4:p.Leu255=
ENST00000378842.7:c.763C>T	ENSP00000368119.3:p.Leu255=
ENST00000450095.6:c.436C>T	ENSP00000401956.2:p.Leu146=
ENST00000473506.6:c.*351C>T	ENSP00000432839.2:n.*351C>T
ENST00000489643.6:n.843C>T
ENST00000554085.5:c.*507C>T	ENSP00000450419.1:n.*507C>T
ENST00000554550.5:c.*383C>T	ENSP00000451435.1:n.*383C>T
ENST00000554638.5:n.1235C>T
ENST00000555020.5:n.1224C>T
ENST00000555086.5:n.767C>T
ENST00000555754.1:n.108C>T
ENST00000556244.1:c.750C>T
ENST00000556278.1:c.432+381C>T	ENSP00000451792.1:n.432+381C>T
ENST00000557706.5:n.1325C>T
NM_000155.3:c.763C>T	NP_000146.2:p.Leu255=
NM_001258332.1:c.436C>T	NP_001245261.1:p.Leu146=
NM_000155.4:c.763C>T MANE Select	NP_000146.2:p.Leu255=
NM_001258332.2:c.436C>T	NP_001245261.1:p.Leu146=