Canonical Allele Identifier: CA373280323

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647667T>G (hg19) ; chr9:g.34647670T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647670T>G , CM000671.2:g.34647670T>G	GRCh38
NC_000009.11:g.34647667T>G , CM000671.1:g.34647667T>G	GRCh37
NC_000009.10:g.34637667T>G	NCBI36
NG_009029.1:g.6033T>G
NG_028966.1:g.486T>G
NG_009029.2:g.6082T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.328+103T>G	ENSP00000509954.1:n.328+103T>G
ENST00000378842.8:c.342T>G MANE Select	ENSP00000368119.4:p.His114Gln
ENST00000378842.7:c.342T>G	ENSP00000368119.3:p.His114Gln
ENST00000450095.6:c.51-162T>G	ENSP00000401956.2:n.51-162T>G
ENST00000465543.6:n.681T>G
ENST00000472111.5:n.472T>G
ENST00000473506.6:c.293T>G	ENSP00000432839.2:p.Ile98Ser
ENST00000473529.5:n.478T>G
ENST00000485531.1:n.657T>G
ENST00000487381.5:n.601T>G
ENST00000489643.6:n.282+412T>G
ENST00000554085.5:c.*86T>G	ENSP00000450419.1:n.*86T>G
ENST00000554139.5:n.395T>G
ENST00000554330.5:n.379T>G
ENST00000554550.5:c.253-162T>G	ENSP00000451435.1:n.253-162T>G
ENST00000554638.5:n.688T>G
ENST00000554897.5:c.253-162T>G	ENSP00000450942.1:n.253-162T>G
ENST00000554944.5:n.412T>G
ENST00000555020.5:n.372T>G
ENST00000555086.5:n.346T>G
ENST00000555214.5:n.262-378T>G
ENST00000556157.1:n.466T>G
ENST00000556244.1:c.329T>G
ENST00000556278.1:c.252+412T>G	ENSP00000451792.1:n.252+412T>G
ENST00000556403.5:n.444T>G
ENST00000556494.5:n.463T>G
ENST00000557541.5:n.486T>G
ENST00000557706.5:n.778T>G
NM_000155.3:c.342T>G	NP_000146.2:p.His114Gln
NM_001258332.1:c.51-162T>G	NP_001245261.1:n.51-162T>G
NM_000155.4:c.342T>G MANE Select	NP_000146.2:p.His114Gln
NM_001258332.2:c.51-162T>G	NP_001245261.1:n.51-162T>G