Canonical Allele Identifier: CA373284047

Gene: GALT

Linked Data

• ClinVar Variation Id: 1993890
• ClinVar RCV Id: RCV002806448 ; RCV003324049
• dbSNP Id: rs111033831
• gnomAD v2: 9-34648886-G-T
• gnomAD v4: 9-34648889-G-T
• MyVariant Identifiers: chr9:g.34648886G>T (hg19) ; chr9:g.34648889G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648889G>T , CM000671.2:g.34648889G>T	GRCh38
NC_000009.11:g.34648886G>T , CM000671.1:g.34648886G>T	GRCh37
NC_000009.10:g.34638886G>T	NCBI36
NG_009029.1:g.7252G>T
NG_028966.1:g.1705G>T
NG_009029.2:g.7301G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*403G>T	ENSP00000509954.1:n.*403G>T
ENST00000378842.8:c.815G>T MANE Select	ENSP00000368119.4:p.Arg272Leu
ENST00000378842.7:c.815G>T	ENSP00000368119.3:p.Arg272Leu
ENST00000450095.6:c.488G>T	ENSP00000401956.2:p.Arg163Leu
ENST00000473506.6:c.*403G>T	ENSP00000432839.2:n.*403G>T
ENST00000489643.6:n.895G>T
ENST00000554085.5:c.*559G>T	ENSP00000450419.1:n.*559G>T
ENST00000554550.5:c.*435G>T	ENSP00000451435.1:n.*435G>T
ENST00000554638.5:n.1287G>T
ENST00000555020.5:n.1276G>T
ENST00000555086.5:n.819G>T
ENST00000555754.1:n.160G>T
ENST00000556244.1:c.802G>T
ENST00000556278.1:c.432+433G>T	ENSP00000451792.1:n.432+433G>T
ENST00000557706.5:n.1377G>T
NM_000155.3:c.815G>T	NP_000146.2:p.Arg272Leu
NM_001258332.1:c.488G>T	NP_001245261.1:p.Arg163Leu
NM_000155.4:c.815G>T MANE Select	NP_000146.2:p.Arg272Leu
NM_001258332.2:c.488G>T	NP_001245261.1:p.Arg163Leu