Canonical Allele Identifier: CA373281784

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648331G>T (hg19) ; chr9:g.34648334G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648334G>T , CM000671.2:g.34648334G>T	GRCh38
NC_000009.11:g.34648331G>T , CM000671.1:g.34648331G>T	GRCh37
NC_000009.10:g.34638331G>T	NCBI36
NG_009029.1:g.6697G>T
NG_028966.1:g.1150G>T
NG_009029.2:g.6746G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*153G>T	ENSP00000509954.1:n.*153G>T
ENST00000378842.8:c.565G>T MANE Select	ENSP00000368119.4:p.Val189Leu
ENST00000378842.7:c.565G>T	ENSP00000368119.3:p.Val189Leu
ENST00000450095.6:c.238G>T	ENSP00000401956.2:p.Val80Leu
ENST00000472111.5:n.821G>T
ENST00000473506.6:c.*153G>T	ENSP00000432839.2:n.*153G>T
ENST00000473529.5:n.724G>T
ENST00000485531.1:n.1159G>T
ENST00000487381.5:n.950G>T
ENST00000489643.6:n.340G>T
ENST00000554085.5:c.*309G>T	ENSP00000450419.1:n.*309G>T
ENST00000554139.5:n.811G>T
ENST00000554550.5:c.*185G>T	ENSP00000451435.1:n.*185G>T
ENST00000554638.5:n.1037G>T
ENST00000554897.5:c.*252G>T	ENSP00000450942.1:n.*252G>T
ENST00000554944.5:n.914G>T
ENST00000555020.5:n.721G>T
ENST00000555086.5:n.569G>T
ENST00000555214.5:n.386G>T
ENST00000556244.1:c.552G>T
ENST00000556278.1:c.310G>T	ENSP00000451792.1:p.Val104Leu
ENST00000556494.5:n.686G>T
ENST00000557706.5:n.1127G>T
NM_000155.3:c.565G>T	NP_000146.2:p.Val189Leu
NM_001258332.1:c.238G>T	NP_001245261.1:p.Val80Leu
NM_000155.4:c.565G>T MANE Select	NP_000146.2:p.Val189Leu
NM_001258332.2:c.238G>T	NP_001245261.1:p.Val80Leu