Canonical Allele Identifier: CA373282038

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648380C>T (hg19) ; chr9:g.34648383C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648383C>T , CM000671.2:g.34648383C>T	GRCh38
NC_000009.11:g.34648380C>T , CM000671.1:g.34648380C>T	GRCh37
NC_000009.10:g.34638380C>T	NCBI36
NG_009029.1:g.6746C>T
NG_028966.1:g.1199C>T
NG_009029.2:g.6795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*202C>T	ENSP00000509954.1:n.*202C>T
ENST00000378842.8:c.614C>T MANE Select	ENSP00000368119.4:p.Ser205Phe
ENST00000378842.7:c.614C>T	ENSP00000368119.3:p.Ser205Phe
ENST00000450095.6:c.287C>T	ENSP00000401956.2:p.Ser96Phe
ENST00000472111.5:n.870C>T
ENST00000473506.6:c.*202C>T	ENSP00000432839.2:n.*202C>T
ENST00000473529.5:n.773C>T
ENST00000487381.5:n.999C>T
ENST00000489643.6:n.389C>T
ENST00000554085.5:c.*358C>T	ENSP00000450419.1:n.*358C>T
ENST00000554550.5:c.*234C>T	ENSP00000451435.1:n.*234C>T
ENST00000554638.5:n.1086C>T
ENST00000554944.5:n.963C>T
ENST00000555020.5:n.770C>T
ENST00000555086.5:n.618C>T
ENST00000555214.5:n.435C>T
ENST00000556244.1:c.601C>T
ENST00000556278.1:c.359C>T	ENSP00000451792.1:p.Ser120Phe
ENST00000556494.5:n.735C>T
ENST00000557706.5:n.1176C>T
NM_000155.3:c.614C>T	NP_000146.2:p.Ser205Phe
NM_001258332.1:c.287C>T	NP_001245261.1:p.Ser96Phe
NM_000155.4:c.614C>T MANE Select	NP_000146.2:p.Ser205Phe
NM_001258332.2:c.287C>T	NP_001245261.1:p.Ser96Phe