Canonical Allele Identifier: CA373282191

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648409G>T (hg19) ; chr9:g.34648412G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648412G>T , CM000671.2:g.34648412G>T	GRCh38
NC_000009.11:g.34648409G>T , CM000671.1:g.34648409G>T	GRCh37
NC_000009.10:g.34638409G>T	NCBI36
NG_009029.1:g.6775G>T
NG_028966.1:g.1228G>T
NG_009029.2:g.6824G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*231G>T	ENSP00000509954.1:n.*231G>T
ENST00000378842.8:c.643G>T MANE Select	ENSP00000368119.4:p.Glu215Ter
ENST00000378842.7:c.643G>T	ENSP00000368119.3:p.Glu215Ter
ENST00000450095.6:c.316G>T	ENSP00000401956.2:p.Glu106Ter
ENST00000472111.5:n.899G>T
ENST00000473506.6:c.*231G>T	ENSP00000432839.2:n.*231G>T
ENST00000473529.5:n.802G>T
ENST00000487381.5:n.1028G>T
ENST00000489643.6:n.418G>T
ENST00000554085.5:c.*387G>T	ENSP00000450419.1:n.*387G>T
ENST00000554550.5:c.*263G>T	ENSP00000451435.1:n.*263G>T
ENST00000554638.5:n.1115G>T
ENST00000555020.5:n.799G>T
ENST00000555086.5:n.647G>T
ENST00000555214.5:n.464G>T
ENST00000556244.1:c.630G>T
ENST00000556278.1:c.388G>T	ENSP00000451792.1:p.Glu130Ter
ENST00000556494.5:n.764G>T
ENST00000557706.5:n.1205G>T
NM_000155.3:c.643G>T	NP_000146.2:p.Glu215Ter
NM_001258332.1:c.316G>T	NP_001245261.1:p.Glu106Ter
NM_000155.4:c.643G>T MANE Select	NP_000146.2:p.Glu215Ter
NM_001258332.2:c.316G>T	NP_001245261.1:p.Glu106Ter