Canonical Allele Identifier: CA259430

Gene: GALT

Linked Data

• dbSNP Id: rs367543259
• MyVariant Identifiers: chr9:g.34648146C>T (hg19) ; chr9:g.34648149C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648149C>T , CM000671.2:g.34648149C>T	GRCh38
NC_000009.11:g.34648146C>T , CM000671.1:g.34648146C>T	GRCh37
NC_000009.10:g.34638146C>T	NCBI36
NG_009029.1:g.6512C>T
NG_028966.1:g.965C>T
NG_009029.2:g.6561C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*130C>T	ENSP00000509954.1:n.*130C>T
ENST00000378842.8:c.542C>T MANE Select	ENSP00000368119.4:p.Ser181Phe
ENST00000378842.7:c.542C>T	ENSP00000368119.3:p.Ser181Phe
ENST00000450095.6:c.215C>T	ENSP00000401956.2:p.Ser72Phe
ENST00000465543.6:n.881C>T
ENST00000472111.5:n.798C>T
ENST00000473506.6:c.*130C>T	ENSP00000432839.2:n.*130C>T
ENST00000473529.5:n.701C>T
ENST00000485531.1:n.1136C>T
ENST00000487381.5:n.927C>T
ENST00000489643.6:n.317C>T
ENST00000554085.5:c.*286C>T	ENSP00000450419.1:n.*286C>T
ENST00000554139.5:n.788C>T
ENST00000554550.5:c.*162C>T	ENSP00000451435.1:n.*162C>T
ENST00000554638.5:n.1014C>T
ENST00000554897.5:c.*229C>T	ENSP00000450942.1:n.*229C>T
ENST00000554944.5:n.891C>T
ENST00000555020.5:n.698C>T
ENST00000555086.5:n.546C>T
ENST00000555214.5:n.363C>T
ENST00000556244.1:c.529C>T
ENST00000556278.1:c.287C>T	ENSP00000451792.1:p.Ser96Phe
ENST00000556494.5:n.663C>T
ENST00000557706.5:n.1104C>T
NM_000155.3:c.542C>T	NP_000146.2:p.Ser181Phe
NM_001258332.1:c.215C>T	NP_001245261.1:p.Ser72Phe
NM_000155.4:c.542C>T MANE Select	NP_000146.2:p.Ser181Phe
NM_001258332.2:c.215C>T	NP_001245261.1:p.Ser72Phe