Canonical Allele Identifier: CA373278765

Gene: GALT

Linked Data

• ClinVar Variation Id: 1662050
• ClinVar RCV Id: RCV002193389
• dbSNP Id: rs2132341779
• MyVariant Identifiers: chr9:g.34647219C>T (hg19) ; chr9:g.34647222C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647222C>T , CM000671.2:g.34647222C>T	GRCh38
NC_000009.11:g.34647219C>T , CM000671.1:g.34647219C>T	GRCh37
NC_000009.10:g.34637219C>T	NCBI36
NG_009029.1:g.5585C>T
NG_028966.1:g.38C>T
NG_009029.2:g.5634C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.216C>T	ENSP00000509954.1:p.Asn72=
ENST00000378842.8:c.216C>T MANE Select	ENSP00000368119.4:p.Asn72=
ENST00000378842.7:c.216C>T	ENSP00000368119.3:p.Asn72=
ENST00000450095.6:c.14C>T	ENSP00000401956.2:p.Thr5Ile
ENST00000465543.6:n.555C>T
ENST00000468099.2:n.256C>T
ENST00000472111.5:n.257C>T
ENST00000473506.6:c.216C>T	ENSP00000432839.2:p.Asn72=
ENST00000473529.5:n.263C>T
ENST00000485531.1:n.209C>T
ENST00000487381.5:n.242C>T
ENST00000489643.6:n.246C>T
ENST00000554085.5:c.216C>T	ENSP00000450419.1:p.Asn72=
ENST00000554139.5:n.269C>T
ENST00000554330.5:n.213C>T
ENST00000554550.5:c.216C>T	ENSP00000451435.1:p.Asn72=
ENST00000554638.5:n.240C>T
ENST00000554897.5:c.216C>T	ENSP00000450942.1:p.Asn72=
ENST00000554944.5:n.246C>T
ENST00000555020.5:n.246C>T
ENST00000555086.5:n.220C>T
ENST00000555214.5:n.225C>T
ENST00000556157.1:n.323C>T
ENST00000556244.1:c.100C>T
ENST00000556278.1:c.216C>T	ENSP00000451792.1:p.Asn72=
ENST00000556403.5:n.229C>T
ENST00000556494.5:n.248C>T
ENST00000557541.5:n.409C>T
ENST00000557706.5:n.330C>T
NM_000155.3:c.216C>T	NP_000146.2:p.Asn72=
NM_001258332.1:c.14C>T	NP_001245261.1:p.Thr5Ile
NM_000155.4:c.216C>T MANE Select	NP_000146.2:p.Asn72=
NM_001258332.2:c.14C>T	NP_001245261.1:p.Thr5Ile