Canonical Allele Identifier: CA373280536

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647832G>T (hg19) ; chr9:g.34647835G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647835G>T , CM000671.2:g.34647835G>T	GRCh38
NC_000009.11:g.34647832G>T , CM000671.1:g.34647832G>T	GRCh37
NC_000009.10:g.34637832G>T	NCBI36
NG_009029.1:g.6198G>T
NG_028966.1:g.651G>T
NG_009029.2:g.6247G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.332G>T	ENSP00000509954.1:p.Arg111Met
ENST00000378842.8:c.381G>T MANE Select	ENSP00000368119.4:p.Lys127Asn
ENST00000378842.7:c.381G>T	ENSP00000368119.3:p.Lys127Asn
ENST00000450095.6:c.54G>T	ENSP00000401956.2:p.Lys18Asn
ENST00000465543.6:n.720G>T
ENST00000472111.5:n.637G>T
ENST00000473506.6:c.332G>T	ENSP00000432839.2:p.Arg111Met
ENST00000473529.5:n.517G>T
ENST00000485531.1:n.822G>T
ENST00000487381.5:n.766G>T
ENST00000489643.6:n.283-280G>T
ENST00000554085.5:c.*125G>T	ENSP00000450419.1:n.*125G>T
ENST00000554139.5:n.560G>T
ENST00000554330.5:n.544G>T
ENST00000554550.5:c.*1G>T	ENSP00000451435.1:n.*1G>T
ENST00000554638.5:n.853G>T
ENST00000554897.5:c.*1G>T	ENSP00000450942.1:n.*1G>T
ENST00000554944.5:n.577G>T
ENST00000555020.5:n.537G>T
ENST00000555086.5:n.385G>T
ENST00000555214.5:n.262-213G>T
ENST00000556244.1:c.368G>T
ENST00000556278.1:c.253-280G>T	ENSP00000451792.1:n.253-280G>T
ENST00000556494.5:n.502G>T
ENST00000557541.5:n.525G>T
ENST00000557706.5:n.943G>T
NM_000155.3:c.381G>T	NP_000146.2:p.Lys127Asn
NM_001258332.1:c.54G>T	NP_001245261.1:p.Lys18Asn
NM_000155.4:c.381G>T MANE Select	NP_000146.2:p.Lys127Asn
NM_001258332.2:c.54G>T	NP_001245261.1:p.Lys18Asn