Canonical Allele Identifier: CA373283629

Gene: GALT

Linked Data

• gnomAD v4: 9-34648805-C-T
• COSMIC: COSM3657058
• MyVariant Identifiers: chr9:g.34648802C>T (hg19) ; chr9:g.34648805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648805C>T , CM000671.2:g.34648805C>T	GRCh38
NC_000009.11:g.34648802C>T , CM000671.1:g.34648802C>T	GRCh37
NC_000009.10:g.34638802C>T	NCBI36
NG_009029.1:g.7168C>T
NG_028966.1:g.1621C>T
NG_009029.2:g.7217C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*319C>T	ENSP00000509954.1:n.*319C>T
ENST00000378842.8:c.731C>T MANE Select	ENSP00000368119.4:p.Pro244Leu
ENST00000378842.7:c.731C>T	ENSP00000368119.3:p.Pro244Leu
ENST00000450095.6:c.404C>T	ENSP00000401956.2:p.Pro135Leu
ENST00000473506.6:c.*319C>T	ENSP00000432839.2:n.*319C>T
ENST00000473529.5:n.890C>T
ENST00000487381.5:n.1421C>T
ENST00000489643.6:n.811C>T
ENST00000554085.5:c.*475C>T	ENSP00000450419.1:n.*475C>T
ENST00000554550.5:c.*351C>T	ENSP00000451435.1:n.*351C>T
ENST00000554638.5:n.1203C>T
ENST00000555020.5:n.1192C>T
ENST00000555086.5:n.735C>T
ENST00000555754.1:n.76C>T
ENST00000556244.1:c.718C>T
ENST00000556278.1:c.432+349C>T	ENSP00000451792.1:n.432+349C>T
ENST00000557706.5:n.1293C>T
NM_000155.3:c.731C>T	NP_000146.2:p.Pro244Leu
NM_001258332.1:c.404C>T	NP_001245261.1:p.Pro135Leu
NM_000155.4:c.731C>T MANE Select	NP_000146.2:p.Pro244Leu
NM_001258332.2:c.404C>T	NP_001245261.1:p.Pro135Leu