Canonical Allele Identifier: CA373279950

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647533C>G (hg19) ; chr9:g.34647536C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647536C>G , CM000671.2:g.34647536C>G	GRCh38
NC_000009.11:g.34647533C>G , CM000671.1:g.34647533C>G	GRCh37
NC_000009.10:g.34637533C>G	NCBI36
NG_009029.1:g.5899C>G
NG_028966.1:g.352C>G
NG_009029.2:g.5948C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.297C>G	ENSP00000509954.1:p.Phe99Leu
ENST00000378842.8:c.297C>G MANE Select	ENSP00000368119.4:p.Phe99Leu
ENST00000378842.7:c.297C>G	ENSP00000368119.3:p.Phe99Leu
ENST00000450095.6:c.50+278C>G	ENSP00000401956.2:n.50+278C>G
ENST00000465543.6:n.636C>G
ENST00000472111.5:n.338C>G
ENST00000473506.6:c.253-5C>G	ENSP00000432839.2:n.253-5C>G
ENST00000473529.5:n.344C>G
ENST00000485531.1:n.523C>G
ENST00000487381.5:n.556C>G
ENST00000489643.6:n.282+278C>G
ENST00000554085.5:c.*41C>G	ENSP00000450419.1:n.*41C>G
ENST00000554139.5:n.350C>G
ENST00000554330.5:n.250-5C>G
ENST00000554550.5:c.252+278C>G	ENSP00000451435.1:n.252+278C>G
ENST00000554638.5:n.554C>G
ENST00000554897.5:c.252+278C>G	ENSP00000450942.1:n.252+278C>G
ENST00000554944.5:n.283-5C>G
ENST00000555020.5:n.327C>G
ENST00000555086.5:n.301C>G
ENST00000555214.5:n.261+278C>G
ENST00000556157.1:n.421C>G
ENST00000556244.1:c.284C>G
ENST00000556278.1:c.252+278C>G	ENSP00000451792.1:n.252+278C>G
ENST00000556403.5:n.310C>G
ENST00000556494.5:n.329C>G
ENST00000557541.5:n.446-5C>G
ENST00000557706.5:n.644C>G
NM_000155.3:c.297C>G	NP_000146.2:p.Phe99Leu
NM_001258332.1:c.50+278C>G	NP_001245261.1:n.50+278C>G
NM_000155.4:c.297C>G MANE Select	NP_000146.2:p.Phe99Leu
NM_001258332.2:c.50+278C>G	NP_001245261.1:n.50+278C>G