Canonical Allele Identifier: CA5036204

Gene: GALT

Linked Data

• dbSNP Id: rs780838954
• ExAC: 9:34648790 T / C
• gnomAD v4: 9-34648793-T-C
• MyVariant Identifiers: chr9:g.34648790T>C (hg19) ; chr9:g.34648793T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648793T>C , CM000671.2:g.34648793T>C	GRCh38
NC_000009.11:g.34648790T>C , CM000671.1:g.34648790T>C	GRCh37
NC_000009.10:g.34638790T>C	NCBI36
NG_009029.1:g.7156T>C
NG_028966.1:g.1609T>C
NG_009029.2:g.7205T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*307T>C	ENSP00000509954.1:n.*307T>C
ENST00000378842.8:c.719T>C MANE Select	ENSP00000368119.4:p.Leu240Ser
ENST00000378842.7:c.719T>C	ENSP00000368119.3:p.Leu240Ser
ENST00000450095.6:c.392T>C	ENSP00000401956.2:p.Leu131Ser
ENST00000473506.6:c.*307T>C	ENSP00000432839.2:n.*307T>C
ENST00000473529.5:n.878T>C
ENST00000487381.5:n.1409T>C
ENST00000489643.6:n.799T>C
ENST00000554085.5:c.*463T>C	ENSP00000450419.1:n.*463T>C
ENST00000554550.5:c.*339T>C	ENSP00000451435.1:n.*339T>C
ENST00000554638.5:n.1191T>C
ENST00000555020.5:n.1180T>C
ENST00000555086.5:n.723T>C
ENST00000555754.1:n.64T>C
ENST00000556244.1:c.706T>C
ENST00000556278.1:c.432+337T>C	ENSP00000451792.1:n.432+337T>C
ENST00000557706.5:n.1281T>C
NM_000155.3:c.719T>C	NP_000146.2:p.Leu240Ser
NM_001258332.1:c.392T>C	NP_001245261.1:p.Leu131Ser
NM_000155.4:c.719T>C MANE Select	NP_000146.2:p.Leu240Ser
NM_001258332.2:c.392T>C	NP_001245261.1:p.Leu131Ser