Canonical Allele Identifier: CA373282318

Gene: GALT

Linked Data

• ClinVar Variation Id: 983984
• ClinVar RCV Id: RCV001263989
• dbSNP Id: rs1821166869
• MyVariant Identifiers: chr9:g.34648436C>T (hg19) ; chr9:g.34648439C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648439C>T , CM000671.2:g.34648439C>T	GRCh38
NC_000009.11:g.34648436C>T , CM000671.1:g.34648436C>T	GRCh37
NC_000009.10:g.34638436C>T	NCBI36
NG_009029.1:g.6802C>T
NG_028966.1:g.1255C>T
NG_009029.2:g.6851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*258C>T	ENSP00000509954.1:n.*258C>T
ENST00000378842.8:c.670C>T MANE Select	ENSP00000368119.4:p.Gln224Ter
ENST00000378842.7:c.670C>T	ENSP00000368119.3:p.Gln224Ter
ENST00000450095.6:c.343C>T	ENSP00000401956.2:p.Gln115Ter
ENST00000472111.5:n.926C>T
ENST00000473506.6:c.*258C>T	ENSP00000432839.2:n.*258C>T
ENST00000473529.5:n.829C>T
ENST00000487381.5:n.1055C>T
ENST00000489643.6:n.445C>T
ENST00000554085.5:c.*414C>T	ENSP00000450419.1:n.*414C>T
ENST00000554550.5:c.*290C>T	ENSP00000451435.1:n.*290C>T
ENST00000554638.5:n.1142C>T
ENST00000555020.5:n.826C>T
ENST00000555086.5:n.674C>T
ENST00000555214.5:n.491C>T
ENST00000555754.1:n.15C>T
ENST00000556244.1:c.657C>T
ENST00000556278.1:c.415C>T	ENSP00000451792.1:p.Gln139Ter
ENST00000556494.5:n.791C>T
ENST00000557706.5:n.1232C>T
NM_000155.3:c.670C>T	NP_000146.2:p.Gln224Ter
NM_001258332.1:c.343C>T	NP_001245261.1:p.Gln115Ter
NM_000155.4:c.670C>T MANE Select	NP_000146.2:p.Gln224Ter
NM_001258332.2:c.343C>T	NP_001245261.1:p.Gln115Ter