Canonical Allele Identifier: CA373280625

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647849C>T (hg19) ; chr9:g.34647852C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647852C>T , CM000671.2:g.34647852C>T	GRCh38
NC_000009.11:g.34647849C>T , CM000671.1:g.34647849C>T	GRCh37
NC_000009.10:g.34637849C>T	NCBI36
NG_009029.1:g.6215C>T
NG_028966.1:g.668C>T
NG_009029.2:g.6264C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.349C>T	ENSP00000509954.1:p.Pro117Ser
ENST00000378842.8:c.398C>T MANE Select	ENSP00000368119.4:p.Pro133Leu
ENST00000378842.7:c.398C>T	ENSP00000368119.3:p.Pro133Leu
ENST00000450095.6:c.71C>T	ENSP00000401956.2:p.Pro24Leu
ENST00000465543.6:n.737C>T
ENST00000472111.5:n.654C>T
ENST00000473506.6:c.349C>T	ENSP00000432839.2:p.Pro117Ser
ENST00000473529.5:n.534C>T
ENST00000485531.1:n.839C>T
ENST00000487381.5:n.783C>T
ENST00000489643.6:n.283-263C>T
ENST00000554085.5:c.*142C>T	ENSP00000450419.1:n.*142C>T
ENST00000554139.5:n.577C>T
ENST00000554550.5:c.*18C>T	ENSP00000451435.1:n.*18C>T
ENST00000554638.5:n.870C>T
ENST00000554897.5:c.*18C>T	ENSP00000450942.1:n.*18C>T
ENST00000554944.5:n.594C>T
ENST00000555020.5:n.554C>T
ENST00000555086.5:n.402C>T
ENST00000555214.5:n.262-196C>T
ENST00000556244.1:c.385C>T
ENST00000556278.1:c.253-263C>T	ENSP00000451792.1:n.253-263C>T
ENST00000556494.5:n.519C>T
ENST00000557541.5:n.542C>T
ENST00000557706.5:n.960C>T
NM_000155.3:c.398C>T	NP_000146.2:p.Pro133Leu
NM_001258332.1:c.71C>T	NP_001245261.1:p.Pro24Leu
NM_000155.4:c.398C>T MANE Select	NP_000146.2:p.Pro133Leu
NM_001258332.2:c.71C>T	NP_001245261.1:p.Pro24Leu