Canonical Allele Identifier: CA373281990

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648368G>T (hg19) ; chr9:g.34648371G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648371G>T , CM000671.2:g.34648371G>T	GRCh38
NC_000009.11:g.34648368G>T , CM000671.1:g.34648368G>T	GRCh37
NC_000009.10:g.34638368G>T	NCBI36
NG_009029.1:g.6734G>T
NG_028966.1:g.1187G>T
NG_009029.2:g.6783G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*190G>T	ENSP00000509954.1:n.*190G>T
ENST00000378842.8:c.602G>T MANE Select	ENSP00000368119.4:p.Arg201Leu
ENST00000378842.7:c.602G>T	ENSP00000368119.3:p.Arg201Leu
ENST00000450095.6:c.275G>T	ENSP00000401956.2:p.Arg92Leu
ENST00000472111.5:n.858G>T
ENST00000473506.6:c.*190G>T	ENSP00000432839.2:n.*190G>T
ENST00000473529.5:n.761G>T
ENST00000485531.1:n.1196G>T
ENST00000487381.5:n.987G>T
ENST00000489643.6:n.377G>T
ENST00000554085.5:c.*346G>T	ENSP00000450419.1:n.*346G>T
ENST00000554139.5:n.848G>T
ENST00000554550.5:c.*222G>T	ENSP00000451435.1:n.*222G>T
ENST00000554638.5:n.1074G>T
ENST00000554897.5:c.*289G>T	ENSP00000450942.1:n.*289G>T
ENST00000554944.5:n.951G>T
ENST00000555020.5:n.758G>T
ENST00000555086.5:n.606G>T
ENST00000555214.5:n.423G>T
ENST00000556244.1:c.589G>T
ENST00000556278.1:c.347G>T	ENSP00000451792.1:p.Arg116Leu
ENST00000556494.5:n.723G>T
ENST00000557706.5:n.1164G>T
NM_000155.3:c.602G>T	NP_000146.2:p.Arg201Leu
NM_001258332.1:c.275G>T	NP_001245261.1:p.Arg92Leu
NM_000155.4:c.602G>T MANE Select	NP_000146.2:p.Arg201Leu
NM_001258332.2:c.275G>T	NP_001245261.1:p.Arg92Leu