Canonical Allele Identifier: CA373283353

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648768G>A (hg19) ; chr9:g.34648771G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648771G>A , CM000671.2:g.34648771G>A	GRCh38
NC_000009.11:g.34648768G>A , CM000671.1:g.34648768G>A	GRCh37
NC_000009.10:g.34638768G>A	NCBI36
NG_009029.1:g.7134G>A
NG_028966.1:g.1587G>A
NG_009029.2:g.7183G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*285G>A	ENSP00000509954.1:n.*285G>A
ENST00000378842.8:c.697G>A MANE Select	ENSP00000368119.4:p.Val233Ile
ENST00000378842.7:c.697G>A	ENSP00000368119.3:p.Val233Ile
ENST00000450095.6:c.370G>A	ENSP00000401956.2:p.Val124Ile
ENST00000473506.6:c.*285G>A	ENSP00000432839.2:n.*285G>A
ENST00000473529.5:n.856G>A
ENST00000487381.5:n.1387G>A
ENST00000489643.6:n.777G>A
ENST00000554085.5:c.*441G>A	ENSP00000450419.1:n.*441G>A
ENST00000554550.5:c.*317G>A	ENSP00000451435.1:n.*317G>A
ENST00000554638.5:n.1169G>A
ENST00000555020.5:n.1158G>A
ENST00000555086.5:n.701G>A
ENST00000555754.1:n.42G>A
ENST00000556244.1:c.684G>A
ENST00000556278.1:c.432+315G>A	ENSP00000451792.1:n.432+315G>A
ENST00000557706.5:n.1259G>A
NM_000155.3:c.697G>A	NP_000146.2:p.Val233Ile
NM_001258332.1:c.370G>A	NP_001245261.1:p.Val124Ile
NM_000155.4:c.697G>A MANE Select	NP_000146.2:p.Val233Ile
NM_001258332.2:c.370G>A	NP_001245261.1:p.Val124Ile