Canonical Allele Identifier: CA464403142

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648837C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648840C>T , CM000671.2:g.34648840C>T	GRCh38
NC_000009.11:g.34648837C>T , CM000671.1:g.34648837C>T	GRCh37
NC_000009.10:g.34638837C>T	NCBI36
NG_009029.1:g.7203C>T
NG_028966.1:g.1656C>T
NG_009029.2:g.7252C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*354C>T	ENSP00000509954.1:n.*354C>T
ENST00000378842.8:c.766C>T MANE Select	ENSP00000368119.4:p.Leu256=
ENST00000378842.7:c.766C>T	ENSP00000368119.3:p.Leu256=
ENST00000450095.6:c.439C>T	ENSP00000401956.2:p.Leu147=
ENST00000473506.6:c.*354C>T	ENSP00000432839.2:n.*354C>T
ENST00000489643.6:n.846C>T
ENST00000554085.5:c.*510C>T	ENSP00000450419.1:n.*510C>T
ENST00000554550.5:c.*386C>T	ENSP00000451435.1:n.*386C>T
ENST00000554638.5:n.1238C>T
ENST00000555020.5:n.1227C>T
ENST00000555086.5:n.770C>T
ENST00000555754.1:n.111C>T
ENST00000556244.1:c.753C>T
ENST00000556278.1:c.432+384C>T	ENSP00000451792.1:n.432+384C>T
ENST00000557706.5:n.1328C>T
NM_000155.3:c.766C>T	NP_000146.2:p.Leu256=
NM_001258332.1:c.439C>T	NP_001245261.1:p.Leu147=
NM_000155.4:c.766C>T MANE Select	NP_000146.2:p.Leu256=
NM_001258332.2:c.439C>T	NP_001245261.1:p.Leu147=