Canonical Allele Identifier: CA464595628

Gene: GALT

Linked Data

• ClinVar Variation Id: 1557504
• ClinVar RCV Id: RCV002195011
• dbSNP Id: rs1307903821
• gnomAD v2: 9-34647515-C-T
• MyVariant Identifiers: chr9:g.34647515C>T (hg19) ; chr9:g.34647518C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647518C>T , CM000671.2:g.34647518C>T	GRCh38
NC_000009.11:g.34647515C>T , CM000671.1:g.34647515C>T	GRCh37
NC_000009.10:g.34637515C>T	NCBI36
NG_009029.1:g.5881C>T
NG_028966.1:g.334C>T
NG_009029.2:g.5930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.279C>T	ENSP00000509954.1:p.Phe93=
ENST00000378842.8:c.279C>T MANE Select	ENSP00000368119.4:p.Phe93=
ENST00000378842.7:c.279C>T	ENSP00000368119.3:p.Phe93=
ENST00000450095.6:c.50+260C>T	ENSP00000401956.2:n.50+260C>T
ENST00000465543.6:n.618C>T
ENST00000472111.5:n.320C>T
ENST00000473506.6:c.253-23C>T	ENSP00000432839.2:n.253-23C>T
ENST00000473529.5:n.326C>T
ENST00000485531.1:n.505C>T
ENST00000487381.5:n.538C>T
ENST00000489643.6:n.282+260C>T
ENST00000554085.5:c.*23C>T	ENSP00000450419.1:n.*23C>T
ENST00000554139.5:n.332C>T
ENST00000554330.5:n.250-23C>T
ENST00000554550.5:c.252+260C>T	ENSP00000451435.1:n.252+260C>T
ENST00000554638.5:n.536C>T
ENST00000554897.5:c.252+260C>T	ENSP00000450942.1:n.252+260C>T
ENST00000554944.5:n.283-23C>T
ENST00000555020.5:n.309C>T
ENST00000555086.5:n.283C>T
ENST00000555214.5:n.261+260C>T
ENST00000556157.1:n.403C>T
ENST00000556244.1:c.266C>T
ENST00000556278.1:c.252+260C>T	ENSP00000451792.1:n.252+260C>T
ENST00000556403.5:n.292C>T
ENST00000556494.5:n.311C>T
ENST00000557541.5:n.446-23C>T
ENST00000557706.5:n.626C>T
NM_000155.3:c.279C>T	NP_000146.2:p.Phe93=
NM_001258332.1:c.50+260C>T	NP_001245261.1:n.50+260C>T
NM_000155.4:c.279C>T MANE Select	NP_000146.2:p.Phe93=
NM_001258332.2:c.50+260C>T	NP_001245261.1:n.50+260C>T