Canonical Allele Identifier: CA464401964

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648339C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648342C>T , CM000671.2:g.34648342C>T	GRCh38
NC_000009.11:g.34648339C>T , CM000671.1:g.34648339C>T	GRCh37
NC_000009.10:g.34638339C>T	NCBI36
NG_009029.1:g.6705C>T
NG_028966.1:g.1158C>T
NG_009029.2:g.6754C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*161C>T	ENSP00000509954.1:n.*161C>T
ENST00000378842.8:c.573C>T MANE Select	ENSP00000368119.4:p.Ala191=
ENST00000378842.7:c.573C>T	ENSP00000368119.3:p.Ala191=
ENST00000450095.6:c.246C>T	ENSP00000401956.2:p.Ala82=
ENST00000472111.5:n.829C>T
ENST00000473506.6:c.*161C>T	ENSP00000432839.2:n.*161C>T
ENST00000473529.5:n.732C>T
ENST00000485531.1:n.1167C>T
ENST00000487381.5:n.958C>T
ENST00000489643.6:n.348C>T
ENST00000554085.5:c.*317C>T	ENSP00000450419.1:n.*317C>T
ENST00000554139.5:n.819C>T
ENST00000554550.5:c.*193C>T	ENSP00000451435.1:n.*193C>T
ENST00000554638.5:n.1045C>T
ENST00000554897.5:c.*260C>T	ENSP00000450942.1:n.*260C>T
ENST00000554944.5:n.922C>T
ENST00000555020.5:n.729C>T
ENST00000555086.5:n.577C>T
ENST00000555214.5:n.394C>T
ENST00000556244.1:c.560C>T
ENST00000556278.1:c.318C>T	ENSP00000451792.1:p.Ala106=
ENST00000556494.5:n.694C>T
ENST00000557706.5:n.1135C>T
NM_000155.3:c.573C>T	NP_000146.2:p.Ala191=
NM_001258332.1:c.246C>T	NP_001245261.1:p.Ala82=
NM_000155.4:c.573C>T MANE Select	NP_000146.2:p.Ala191=
NM_001258332.2:c.246C>T	NP_001245261.1:p.Ala82=