Canonical Allele Identifier: CA464595622

Gene: GALT

Linked Data

• ClinVar Variation Id: 1651098
• ClinVar RCV Id: RCV002151532
• dbSNP Id: rs2132342404
• gnomAD v4: 9-34647512-C-T
• MyVariant Identifiers: chr9:g.34647509C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647512C>T , CM000671.2:g.34647512C>T	GRCh38
NC_000009.11:g.34647509C>T , CM000671.1:g.34647509C>T	GRCh37
NC_000009.10:g.34637509C>T	NCBI36
NG_009029.1:g.5875C>T
NG_028966.1:g.328C>T
NG_009029.2:g.5924C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.273C>T	ENSP00000509954.1:p.Ser91=
ENST00000378842.8:c.273C>T MANE Select	ENSP00000368119.4:p.Ser91=
ENST00000378842.7:c.273C>T	ENSP00000368119.3:p.Ser91=
ENST00000450095.6:c.50+254C>T	ENSP00000401956.2:n.50+254C>T
ENST00000465543.6:n.612C>T
ENST00000468099.2:n.546C>T
ENST00000472111.5:n.314C>T
ENST00000473506.6:c.253-29C>T	ENSP00000432839.2:n.253-29C>T
ENST00000473529.5:n.320C>T
ENST00000485531.1:n.499C>T
ENST00000487381.5:n.532C>T
ENST00000489643.6:n.282+254C>T
ENST00000554085.5:c.*17C>T	ENSP00000450419.1:n.*17C>T
ENST00000554139.5:n.326C>T
ENST00000554330.5:n.250-29C>T
ENST00000554550.5:c.252+254C>T	ENSP00000451435.1:n.252+254C>T
ENST00000554638.5:n.530C>T
ENST00000554897.5:c.252+254C>T	ENSP00000450942.1:n.252+254C>T
ENST00000554944.5:n.283-29C>T
ENST00000555020.5:n.303C>T
ENST00000555086.5:n.277C>T
ENST00000555214.5:n.261+254C>T
ENST00000556157.1:n.397C>T
ENST00000556244.1:c.260C>T
ENST00000556278.1:c.252+254C>T	ENSP00000451792.1:n.252+254C>T
ENST00000556403.5:n.286C>T
ENST00000556494.5:n.305C>T
ENST00000557541.5:n.446-29C>T
ENST00000557706.5:n.620C>T
NM_000155.3:c.273C>T	NP_000146.2:p.Ser91=
NM_001258332.1:c.50+254C>T	NP_001245261.1:n.50+254C>T
NM_000155.4:c.273C>T MANE Select	NP_000146.2:p.Ser91=
NM_001258332.2:c.50+254C>T	NP_001245261.1:n.50+254C>T