Canonical Allele Identifier: CA373282212

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648413C>T (hg19) ; chr9:g.34648416C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648416C>T , CM000671.2:g.34648416C>T	GRCh38
NC_000009.11:g.34648413C>T , CM000671.1:g.34648413C>T	GRCh37
NC_000009.10:g.34638413C>T	NCBI36
NG_009029.1:g.6779C>T
NG_028966.1:g.1232C>T
NG_009029.2:g.6828C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*235C>T	ENSP00000509954.1:n.*235C>T
ENST00000378842.8:c.647C>T MANE Select	ENSP00000368119.4:p.Pro216Leu
ENST00000378842.7:c.647C>T	ENSP00000368119.3:p.Pro216Leu
ENST00000450095.6:c.320C>T	ENSP00000401956.2:p.Pro107Leu
ENST00000472111.5:n.903C>T
ENST00000473506.6:c.*235C>T	ENSP00000432839.2:n.*235C>T
ENST00000473529.5:n.806C>T
ENST00000487381.5:n.1032C>T
ENST00000489643.6:n.422C>T
ENST00000554085.5:c.*391C>T	ENSP00000450419.1:n.*391C>T
ENST00000554550.5:c.*267C>T	ENSP00000451435.1:n.*267C>T
ENST00000554638.5:n.1119C>T
ENST00000555020.5:n.803C>T
ENST00000555086.5:n.651C>T
ENST00000555214.5:n.468C>T
ENST00000556244.1:c.634C>T
ENST00000556278.1:c.392C>T	ENSP00000451792.1:p.Pro131Leu
ENST00000556494.5:n.768C>T
ENST00000557706.5:n.1209C>T
NM_000155.3:c.647C>T	NP_000146.2:p.Pro216Leu
NM_001258332.1:c.320C>T	NP_001245261.1:p.Pro107Leu
NM_000155.4:c.647C>T MANE Select	NP_000146.2:p.Pro216Leu
NM_001258332.2:c.320C>T	NP_001245261.1:p.Pro107Leu