Canonical Allele Identifier: CA373283688

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648809G>T (hg19) ; chr9:g.34648812G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648812G>T , CM000671.2:g.34648812G>T	GRCh38
NC_000009.11:g.34648809G>T , CM000671.1:g.34648809G>T	GRCh37
NC_000009.10:g.34638809G>T	NCBI36
NG_009029.1:g.7175G>T
NG_028966.1:g.1628G>T
NG_009029.2:g.7224G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*326G>T	ENSP00000509954.1:n.*326G>T
ENST00000378842.8:c.738G>T MANE Select	ENSP00000368119.4:p.Trp246Cys
ENST00000378842.7:c.738G>T	ENSP00000368119.3:p.Trp246Cys
ENST00000450095.6:c.411G>T	ENSP00000401956.2:p.Trp137Cys
ENST00000473506.6:c.*326G>T	ENSP00000432839.2:n.*326G>T
ENST00000473529.5:n.897G>T
ENST00000487381.5:n.1428G>T
ENST00000489643.6:n.818G>T
ENST00000554085.5:c.*482G>T	ENSP00000450419.1:n.*482G>T
ENST00000554550.5:c.*358G>T	ENSP00000451435.1:n.*358G>T
ENST00000554638.5:n.1210G>T
ENST00000555020.5:n.1199G>T
ENST00000555086.5:n.742G>T
ENST00000555754.1:n.83G>T
ENST00000556244.1:c.725G>T
ENST00000556278.1:c.432+356G>T	ENSP00000451792.1:n.432+356G>T
ENST00000557706.5:n.1300G>T
NM_000155.3:c.738G>T	NP_000146.2:p.Trp246Cys
NM_001258332.1:c.411G>T	NP_001245261.1:p.Trp137Cys
NM_000155.4:c.738G>T MANE Select	NP_000146.2:p.Trp246Cys
NM_001258332.2:c.411G>T	NP_001245261.1:p.Trp137Cys