Canonical Allele Identifier: CA373278928

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647249C>T (hg19) ; chr9:g.34647252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647252C>T , CM000671.2:g.34647252C>T	GRCh38
NC_000009.11:g.34647249C>T , CM000671.1:g.34647249C>T	GRCh37
NC_000009.10:g.34637249C>T	NCBI36
NG_009029.1:g.5615C>T
NG_028966.1:g.68C>T
NG_009029.2:g.5664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.246C>T	ENSP00000509954.1:p.Asn82=
ENST00000378842.8:c.246C>T MANE Select	ENSP00000368119.4:p.Asn82=
ENST00000378842.7:c.246C>T	ENSP00000368119.3:p.Asn82=
ENST00000450095.6:c.44C>T	ENSP00000401956.2:p.Thr15Met
ENST00000465543.6:n.585C>T
ENST00000468099.2:n.286C>T
ENST00000472111.5:n.287C>T
ENST00000473506.6:c.246C>T	ENSP00000432839.2:p.Asn82=
ENST00000473529.5:n.293C>T
ENST00000485531.1:n.239C>T
ENST00000487381.5:n.272C>T
ENST00000489643.6:n.276C>T
ENST00000554085.5:c.246C>T	ENSP00000450419.1:p.Asn82=
ENST00000554139.5:n.299C>T
ENST00000554330.5:n.243C>T
ENST00000554550.5:c.246C>T	ENSP00000451435.1:p.Asn82=
ENST00000554638.5:n.270C>T
ENST00000554897.5:c.246C>T	ENSP00000450942.1:p.Asn82=
ENST00000554944.5:n.276C>T
ENST00000555020.5:n.276C>T
ENST00000555086.5:n.250C>T
ENST00000555214.5:n.255C>T
ENST00000556157.1:n.353C>T
ENST00000556244.1:c.130C>T
ENST00000556278.1:c.246C>T	ENSP00000451792.1:p.Asn82=
ENST00000556403.5:n.259C>T
ENST00000556494.5:n.278C>T
ENST00000557541.5:n.439C>T
ENST00000557706.5:n.360C>T
NM_000155.3:c.246C>T	NP_000146.2:p.Asn82=
NM_001258332.1:c.44C>T	NP_001245261.1:p.Thr15Met
NM_000155.4:c.246C>T MANE Select	NP_000146.2:p.Asn82=
NM_001258332.2:c.44C>T	NP_001245261.1:p.Thr15Met