Canonical Allele Identifier: CA373279148

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647508G>T (hg19) ; chr9:g.34647511G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647511G>T , CM000671.2:g.34647511G>T	GRCh38
NC_000009.11:g.34647508G>T , CM000671.1:g.34647508G>T	GRCh37
NC_000009.10:g.34637508G>T	NCBI36
NG_009029.1:g.5874G>T
NG_028966.1:g.327G>T
NG_009029.2:g.5923G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.272G>T	ENSP00000509954.1:p.Ser91Ile
ENST00000378842.8:c.272G>T MANE Select	ENSP00000368119.4:p.Ser91Ile
ENST00000378842.7:c.272G>T	ENSP00000368119.3:p.Ser91Ile
ENST00000450095.6:c.50+253G>T	ENSP00000401956.2:n.50+253G>T
ENST00000465543.6:n.611G>T
ENST00000468099.2:n.545G>T
ENST00000472111.5:n.313G>T
ENST00000473506.6:c.253-30G>T	ENSP00000432839.2:n.253-30G>T
ENST00000473529.5:n.319G>T
ENST00000485531.1:n.498G>T
ENST00000487381.5:n.531G>T
ENST00000489643.6:n.282+253G>T
ENST00000554085.5:c.*16G>T	ENSP00000450419.1:n.*16G>T
ENST00000554139.5:n.325G>T
ENST00000554330.5:n.250-30G>T
ENST00000554550.5:c.252+253G>T	ENSP00000451435.1:n.252+253G>T
ENST00000554638.5:n.529G>T
ENST00000554897.5:c.252+253G>T	ENSP00000450942.1:n.252+253G>T
ENST00000554944.5:n.283-30G>T
ENST00000555020.5:n.302G>T
ENST00000555086.5:n.276G>T
ENST00000555214.5:n.261+253G>T
ENST00000556157.1:n.396G>T
ENST00000556244.1:c.259G>T
ENST00000556278.1:c.252+253G>T	ENSP00000451792.1:n.252+253G>T
ENST00000556403.5:n.285G>T
ENST00000556494.5:n.304G>T
ENST00000557541.5:n.446-30G>T
ENST00000557706.5:n.619G>T
NM_000155.3:c.272G>T	NP_000146.2:p.Ser91Ile
NM_001258332.1:c.50+253G>T	NP_001245261.1:n.50+253G>T
NM_000155.4:c.272G>T MANE Select	NP_000146.2:p.Ser91Ile
NM_001258332.2:c.50+253G>T	NP_001245261.1:n.50+253G>T