Canonical Allele Identifier: CA373281922

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648352C>T (hg19) ; chr9:g.34648355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648355C>T , CM000671.2:g.34648355C>T	GRCh38
NC_000009.11:g.34648352C>T , CM000671.1:g.34648352C>T	GRCh37
NC_000009.10:g.34638352C>T	NCBI36
NG_009029.1:g.6718C>T
NG_028966.1:g.1171C>T
NG_009029.2:g.6767C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*174C>T	ENSP00000509954.1:n.*174C>T
ENST00000378842.8:c.586C>T MANE Select	ENSP00000368119.4:p.Pro196Ser
ENST00000378842.7:c.586C>T	ENSP00000368119.3:p.Pro196Ser
ENST00000450095.6:c.259C>T	ENSP00000401956.2:p.Pro87Ser
ENST00000472111.5:n.842C>T
ENST00000473506.6:c.*174C>T	ENSP00000432839.2:n.*174C>T
ENST00000473529.5:n.745C>T
ENST00000485531.1:n.1180C>T
ENST00000487381.5:n.971C>T
ENST00000489643.6:n.361C>T
ENST00000554085.5:c.*330C>T	ENSP00000450419.1:n.*330C>T
ENST00000554139.5:n.832C>T
ENST00000554550.5:c.*206C>T	ENSP00000451435.1:n.*206C>T
ENST00000554638.5:n.1058C>T
ENST00000554897.5:c.*273C>T	ENSP00000450942.1:n.*273C>T
ENST00000554944.5:n.935C>T
ENST00000555020.5:n.742C>T
ENST00000555086.5:n.590C>T
ENST00000555214.5:n.407C>T
ENST00000556244.1:c.573C>T
ENST00000556278.1:c.331C>T	ENSP00000451792.1:p.Pro111Ser
ENST00000556494.5:n.707C>T
ENST00000557706.5:n.1148C>T
NM_000155.3:c.586C>T	NP_000146.2:p.Pro196Ser
NM_001258332.1:c.259C>T	NP_001245261.1:p.Pro87Ser
NM_000155.4:c.586C>T MANE Select	NP_000146.2:p.Pro196Ser
NM_001258332.2:c.259C>T	NP_001245261.1:p.Pro87Ser