Canonical Allele Identifier: CA373281911

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648350T>A (hg19) ; chr9:g.34648353T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648353T>A , CM000671.2:g.34648353T>A	GRCh38
NC_000009.11:g.34648350T>A , CM000671.1:g.34648350T>A	GRCh37
NC_000009.10:g.34638350T>A	NCBI36
NG_009029.1:g.6716T>A
NG_028966.1:g.1169T>A
NG_009029.2:g.6765T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*172T>A	ENSP00000509954.1:n.*172T>A
ENST00000378842.8:c.584T>A MANE Select	ENSP00000368119.4:p.Leu195Gln
ENST00000378842.7:c.584T>A	ENSP00000368119.3:p.Leu195Gln
ENST00000450095.6:c.257T>A	ENSP00000401956.2:p.Leu86Gln
ENST00000472111.5:n.840T>A
ENST00000473506.6:c.*172T>A	ENSP00000432839.2:n.*172T>A
ENST00000473529.5:n.743T>A
ENST00000485531.1:n.1178T>A
ENST00000487381.5:n.969T>A
ENST00000489643.6:n.359T>A
ENST00000554085.5:c.*328T>A	ENSP00000450419.1:n.*328T>A
ENST00000554139.5:n.830T>A
ENST00000554550.5:c.*204T>A	ENSP00000451435.1:n.*204T>A
ENST00000554638.5:n.1056T>A
ENST00000554897.5:c.*271T>A	ENSP00000450942.1:n.*271T>A
ENST00000554944.5:n.933T>A
ENST00000555020.5:n.740T>A
ENST00000555086.5:n.588T>A
ENST00000555214.5:n.405T>A
ENST00000556244.1:c.571T>A
ENST00000556278.1:c.329T>A	ENSP00000451792.1:p.Leu110Gln
ENST00000556494.5:n.705T>A
ENST00000557706.5:n.1146T>A
NM_000155.3:c.584T>A	NP_000146.2:p.Leu195Gln
NM_001258332.1:c.257T>A	NP_001245261.1:p.Leu86Gln
NM_000155.4:c.584T>A MANE Select	NP_000146.2:p.Leu195Gln
NM_001258332.2:c.257T>A	NP_001245261.1:p.Leu86Gln