Canonical Allele Identifier: CA373279173

Gene: GALT

Linked Data

• ClinVar Variation Id: 1028105
• ClinVar RCV Id: RCV001329065
• dbSNP Id: rs1821135918
• MyVariant Identifiers: chr9:g.34647514T>C (hg19) ; chr9:g.34647517T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647517T>C , CM000671.2:g.34647517T>C	GRCh38
NC_000009.11:g.34647514T>C , CM000671.1:g.34647514T>C	GRCh37
NC_000009.10:g.34637514T>C	NCBI36
NG_009029.1:g.5880T>C
NG_028966.1:g.333T>C
NG_009029.2:g.5929T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.278T>C	ENSP00000509954.1:p.Phe93Ser
ENST00000378842.8:c.278T>C MANE Select	ENSP00000368119.4:p.Phe93Ser
ENST00000378842.7:c.278T>C	ENSP00000368119.3:p.Phe93Ser
ENST00000450095.6:c.50+259T>C	ENSP00000401956.2:n.50+259T>C
ENST00000465543.6:n.617T>C
ENST00000468099.2:n.551T>C
ENST00000472111.5:n.319T>C
ENST00000473506.6:c.253-24T>C	ENSP00000432839.2:n.253-24T>C
ENST00000473529.5:n.325T>C
ENST00000485531.1:n.504T>C
ENST00000487381.5:n.537T>C
ENST00000489643.6:n.282+259T>C
ENST00000554085.5:c.*22T>C	ENSP00000450419.1:n.*22T>C
ENST00000554139.5:n.331T>C
ENST00000554330.5:n.250-24T>C
ENST00000554550.5:c.252+259T>C	ENSP00000451435.1:n.252+259T>C
ENST00000554638.5:n.535T>C
ENST00000554897.5:c.252+259T>C	ENSP00000450942.1:n.252+259T>C
ENST00000554944.5:n.283-24T>C
ENST00000555020.5:n.308T>C
ENST00000555086.5:n.282T>C
ENST00000555214.5:n.261+259T>C
ENST00000556157.1:n.402T>C
ENST00000556244.1:c.265T>C
ENST00000556278.1:c.252+259T>C	ENSP00000451792.1:n.252+259T>C
ENST00000556403.5:n.291T>C
ENST00000556494.5:n.310T>C
ENST00000557541.5:n.446-24T>C
ENST00000557706.5:n.625T>C
NM_000155.3:c.278T>C	NP_000146.2:p.Phe93Ser
NM_001258332.1:c.50+259T>C	NP_001245261.1:n.50+259T>C
NM_000155.4:c.278T>C MANE Select	NP_000146.2:p.Phe93Ser
NM_001258332.2:c.50+259T>C	NP_001245261.1:n.50+259T>C