Canonical Allele Identifier: CA464403126

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648833G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648836G>T , CM000671.2:g.34648836G>T	GRCh38
NC_000009.11:g.34648833G>T , CM000671.1:g.34648833G>T	GRCh37
NC_000009.10:g.34638833G>T	NCBI36
NG_009029.1:g.7199G>T
NG_028966.1:g.1652G>T
NG_009029.2:g.7248G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*350G>T	ENSP00000509954.1:n.*350G>T
ENST00000378842.8:c.762G>T MANE Select	ENSP00000368119.4:p.Leu254=
ENST00000378842.7:c.762G>T	ENSP00000368119.3:p.Leu254=
ENST00000450095.6:c.435G>T	ENSP00000401956.2:p.Leu145=
ENST00000473506.6:c.*350G>T	ENSP00000432839.2:n.*350G>T
ENST00000489643.6:n.842G>T
ENST00000554085.5:c.*506G>T	ENSP00000450419.1:n.*506G>T
ENST00000554550.5:c.*382G>T	ENSP00000451435.1:n.*382G>T
ENST00000554638.5:n.1234G>T
ENST00000555020.5:n.1223G>T
ENST00000555086.5:n.766G>T
ENST00000555754.1:n.107G>T
ENST00000556244.1:c.749G>T
ENST00000556278.1:c.432+380G>T	ENSP00000451792.1:n.432+380G>T
ENST00000557706.5:n.1324G>T
NM_000155.3:c.762G>T	NP_000146.2:p.Leu254=
NM_001258332.1:c.435G>T	NP_001245261.1:p.Leu145=
NM_000155.4:c.762G>T MANE Select	NP_000146.2:p.Leu254=
NM_001258332.2:c.435G>T	NP_001245261.1:p.Leu145=