Canonical Allele Identifier: CA373281958

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648362T>C , CM000671.2:g.34648362T>C	GRCh38
NC_000009.11:g.34648359T>C , CM000671.1:g.34648359T>C	GRCh37
NC_000009.10:g.34638359T>C	NCBI36
NG_009029.1:g.6725T>C
NG_028966.1:g.1178T>C
NG_009029.2:g.6774T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*181T>C	ENSP00000509954.1:n.*181T>C
ENST00000378842.8:c.593T>C MANE Select	ENSP00000368119.4:p.Ile198Thr
ENST00000378842.7:c.593T>C	ENSP00000368119.3:p.Ile198Thr
ENST00000450095.6:c.266T>C	ENSP00000401956.2:p.Ile89Thr
ENST00000472111.5:n.849T>C
ENST00000473506.6:c.*181T>C	ENSP00000432839.2:n.*181T>C
ENST00000473529.5:n.752T>C
ENST00000485531.1:n.1187T>C
ENST00000487381.5:n.978T>C
ENST00000489643.6:n.368T>C
ENST00000554085.5:c.*337T>C	ENSP00000450419.1:n.*337T>C
ENST00000554139.5:n.839T>C
ENST00000554550.5:c.*213T>C	ENSP00000451435.1:n.*213T>C
ENST00000554638.5:n.1065T>C
ENST00000554897.5:c.*280T>C	ENSP00000450942.1:n.*280T>C
ENST00000554944.5:n.942T>C
ENST00000555020.5:n.749T>C
ENST00000555086.5:n.597T>C
ENST00000555214.5:n.414T>C
ENST00000556244.1:c.580T>C
ENST00000556278.1:c.338T>C	ENSP00000451792.1:p.Ile113Thr
ENST00000556494.5:n.714T>C
ENST00000557706.5:n.1155T>C
NM_000155.3:c.593T>C	NP_000146.2:p.Ile198Thr
NM_001258332.1:c.266T>C	NP_001245261.1:p.Ile89Thr
NM_000155.4:c.593T>C MANE Select	NP_000146.2:p.Ile198Thr
NM_001258332.2:c.266T>C	NP_001245261.1:p.Ile89Thr