Canonical Allele Identifier: CA373280184

Gene: GALT

Linked Data

• ClinVar Variation Id: 2633382
• ClinVar RCV Id: RCV003400070
• MyVariant Identifiers: chr9:g.34647565G>C (hg19) ; chr9:g.34647568G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647568G>C , CM000671.2:g.34647568G>C	GRCh38
NC_000009.11:g.34647565G>C , CM000671.1:g.34647565G>C	GRCh37
NC_000009.10:g.34637565G>C	NCBI36
NG_009029.1:g.5931G>C
NG_028966.1:g.384G>C
NG_009029.2:g.5980G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.328+1G>C	ENSP00000509954.1:n.328+1G>C
ENST00000378842.8:c.328+1G>C MANE Select	ENSP00000368119.4:n.328+1G>C
ENST00000378842.7:c.328+1G>C	ENSP00000368119.3:n.328+1G>C
ENST00000450095.6:c.51-264G>C	ENSP00000401956.2:n.51-264G>C
ENST00000465543.6:n.667+1G>C
ENST00000472111.5:n.370G>C
ENST00000473506.6:c.279+1G>C	ENSP00000432839.2:n.279+1G>C
ENST00000473529.5:n.376G>C
ENST00000485531.1:n.555G>C
ENST00000487381.5:n.587+1G>C
ENST00000489643.6:n.282+310G>C
ENST00000554085.5:c.*72+1G>C	ENSP00000450419.1:n.*72+1G>C
ENST00000554139.5:n.381+1G>C
ENST00000554330.5:n.277G>C
ENST00000554550.5:c.253-264G>C	ENSP00000451435.1:n.253-264G>C
ENST00000554638.5:n.586G>C
ENST00000554897.5:c.253-264G>C	ENSP00000450942.1:n.253-264G>C
ENST00000554944.5:n.310G>C
ENST00000555020.5:n.358+1G>C
ENST00000555086.5:n.332+1G>C
ENST00000555214.5:n.261+310G>C
ENST00000556157.1:n.452+1G>C
ENST00000556244.1:c.315+1G>C
ENST00000556278.1:c.252+310G>C	ENSP00000451792.1:n.252+310G>C
ENST00000556403.5:n.342G>C
ENST00000556494.5:n.361G>C
ENST00000557541.5:n.472+1G>C
ENST00000557706.5:n.676G>C
NM_000155.3:c.328+1G>C	NP_000146.2:n.328+1G>C
NM_001258332.1:c.51-264G>C	NP_001245261.1:n.51-264G>C
NM_000155.4:c.328+1G>C MANE Select	NP_000146.2:n.328+1G>C
NM_001258332.2:c.51-264G>C	NP_001245261.1:n.51-264G>C