Canonical Allele Identifier: CA373280439

Gene: GALT

Linked Data

• ClinVar Variation Id: 2683037
• ClinVar RCV Id: RCV003609300 ; RCV003481904
• MyVariant Identifiers: chr9:g.34647696G>T (hg19) ; chr9:g.34647699G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647699G>T , CM000671.2:g.34647699G>T	GRCh38
NC_000009.11:g.34647696G>T , CM000671.1:g.34647696G>T	GRCh37
NC_000009.10:g.34637696G>T	NCBI36
NG_009029.1:g.6062G>T
NG_028966.1:g.515G>T
NG_009029.2:g.6111G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.329-133G>T	ENSP00000509954.1:n.329-133G>T
ENST00000378842.8:c.371G>T MANE Select	ENSP00000368119.4:p.Gly124Val
ENST00000378842.7:c.371G>T	ENSP00000368119.3:p.Gly124Val
ENST00000450095.6:c.51-133G>T	ENSP00000401956.2:n.51-133G>T
ENST00000465543.6:n.710G>T
ENST00000472111.5:n.501G>T
ENST00000473506.6:c.322G>T	ENSP00000432839.2:p.Glu108Ter
ENST00000473529.5:n.507G>T
ENST00000485531.1:n.686G>T
ENST00000487381.5:n.630G>T
ENST00000489643.6:n.283-416G>T
ENST00000554085.5:c.*115G>T	ENSP00000450419.1:n.*115G>T
ENST00000554139.5:n.424G>T
ENST00000554330.5:n.408G>T
ENST00000554550.5:c.253-133G>T	ENSP00000451435.1:n.253-133G>T
ENST00000554638.5:n.717G>T
ENST00000554897.5:c.253-133G>T	ENSP00000450942.1:n.253-133G>T
ENST00000554944.5:n.441G>T
ENST00000555020.5:n.401G>T
ENST00000555086.5:n.375G>T
ENST00000555214.5:n.262-349G>T
ENST00000556157.1:n.495G>T
ENST00000556244.1:c.358G>T
ENST00000556278.1:c.253-416G>T	ENSP00000451792.1:n.253-416G>T
ENST00000556403.5:n.473G>T
ENST00000556494.5:n.492G>T
ENST00000557541.5:n.515G>T
ENST00000557706.5:n.807G>T
NM_000155.3:c.371G>T	NP_000146.2:p.Gly124Val
NM_001258332.1:c.51-133G>T	NP_001245261.1:n.51-133G>T
NM_000155.4:c.371G>T MANE Select	NP_000146.2:p.Gly124Val
NM_001258332.2:c.51-133G>T	NP_001245261.1:n.51-133G>T