Canonical Allele Identifier: CA373283765

Gene: GALT

Linked Data

• gnomAD v4: 9-34648820-G-T
• MyVariant Identifiers: chr9:g.34648817G>T (hg19) ; chr9:g.34648820G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648820G>T , CM000671.2:g.34648820G>T	GRCh38
NC_000009.11:g.34648817G>T , CM000671.1:g.34648817G>T	GRCh37
NC_000009.10:g.34638817G>T	NCBI36
NG_009029.1:g.7183G>T
NG_028966.1:g.1636G>T
NG_009029.2:g.7232G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*334G>T	ENSP00000509954.1:n.*334G>T
ENST00000378842.8:c.746G>T MANE Select	ENSP00000368119.4:p.Trp249Leu
ENST00000378842.7:c.746G>T	ENSP00000368119.3:p.Trp249Leu
ENST00000450095.6:c.419G>T	ENSP00000401956.2:p.Trp140Leu
ENST00000473506.6:c.*334G>T	ENSP00000432839.2:n.*334G>T
ENST00000473529.5:n.905G>T
ENST00000487381.5:n.1436G>T
ENST00000489643.6:n.826G>T
ENST00000554085.5:c.*490G>T	ENSP00000450419.1:n.*490G>T
ENST00000554550.5:c.*366G>T	ENSP00000451435.1:n.*366G>T
ENST00000554638.5:n.1218G>T
ENST00000555020.5:n.1207G>T
ENST00000555086.5:n.750G>T
ENST00000555754.1:n.91G>T
ENST00000556244.1:c.733G>T
ENST00000556278.1:c.432+364G>T	ENSP00000451792.1:n.432+364G>T
ENST00000557706.5:n.1308G>T
NM_000155.3:c.746G>T	NP_000146.2:p.Trp249Leu
NM_001258332.1:c.419G>T	NP_001245261.1:p.Trp140Leu
NM_000155.4:c.746G>T MANE Select	NP_000146.2:p.Trp249Leu
NM_001258332.2:c.419G>T	NP_001245261.1:p.Trp140Leu