Canonical Allele Identifier: CA192669233

Gene: GALT

Linked Data

• dbSNP Id: rs776666045
• MyVariant Identifiers: chr9:g.34647149T>G (hg19) ; chr9:g.34647152T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647152T>G , CM000671.2:g.34647152T>G	GRCh38
NC_000009.11:g.34647149T>G , CM000671.1:g.34647149T>G	GRCh37
NC_000009.10:g.34637149T>G	NCBI36
NG_009029.1:g.5515T>G
NG_009029.2:g.5564T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.146T>G	ENSP00000509954.1:p.Met49Arg
ENST00000378842.8:c.146T>G MANE Select	ENSP00000368119.4:p.Met49Arg
ENST00000378842.7:c.146T>G	ENSP00000368119.3:p.Met49Arg
ENST00000450095.6:c.-57T>G	ENSP00000401956.2:n.-57T>G
ENST00000465543.6:n.485T>G
ENST00000468099.2:n.186T>G
ENST00000472111.5:n.187T>G
ENST00000473506.6:c.146T>G	ENSP00000432839.2:p.Met49Arg
ENST00000473529.5:n.193T>G
ENST00000485531.1:n.139T>G
ENST00000487381.5:n.172T>G
ENST00000489643.6:n.176T>G
ENST00000554085.5:c.146T>G	ENSP00000450419.1:p.Met49Arg
ENST00000554139.5:n.199T>G
ENST00000554330.5:n.143T>G
ENST00000554550.5:c.146T>G	ENSP00000451435.1:p.Met49Arg
ENST00000554638.5:n.170T>G
ENST00000554897.5:c.146T>G	ENSP00000450942.1:p.Met49Arg
ENST00000554944.5:n.176T>G
ENST00000555020.5:n.176T>G
ENST00000555086.5:n.150T>G
ENST00000555214.5:n.155T>G
ENST00000556157.1:n.253T>G
ENST00000556244.1:c.30T>G
ENST00000556278.1:c.146T>G	ENSP00000451792.1:p.Met49Arg
ENST00000556403.5:n.159T>G
ENST00000556494.5:n.178T>G
ENST00000557541.5:n.339T>G
ENST00000557706.5:n.260T>G
NM_000155.3:c.146T>G	NP_000146.2:p.Met49Arg
NM_001258332.1:c.-57T>G	NP_001245261.1:n.-57T>G
NM_000155.4:c.146T>G MANE Select	NP_000146.2:p.Met49Arg
NM_001258332.2:c.-57T>G	NP_001245261.1:n.-57T>G