Canonical Allele Identifier: CA373281835

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648337G>T (hg19) ; chr9:g.34648340G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648340G>T , CM000671.2:g.34648340G>T	GRCh38
NC_000009.11:g.34648337G>T , CM000671.1:g.34648337G>T	GRCh37
NC_000009.10:g.34638337G>T	NCBI36
NG_009029.1:g.6703G>T
NG_028966.1:g.1156G>T
NG_009029.2:g.6752G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*159G>T	ENSP00000509954.1:n.*159G>T
ENST00000378842.8:c.571G>T MANE Select	ENSP00000368119.4:p.Ala191Ser
ENST00000378842.7:c.571G>T	ENSP00000368119.3:p.Ala191Ser
ENST00000450095.6:c.244G>T	ENSP00000401956.2:p.Ala82Ser
ENST00000472111.5:n.827G>T
ENST00000473506.6:c.*159G>T	ENSP00000432839.2:n.*159G>T
ENST00000473529.5:n.730G>T
ENST00000485531.1:n.1165G>T
ENST00000487381.5:n.956G>T
ENST00000489643.6:n.346G>T
ENST00000554085.5:c.*315G>T	ENSP00000450419.1:n.*315G>T
ENST00000554139.5:n.817G>T
ENST00000554550.5:c.*191G>T	ENSP00000451435.1:n.*191G>T
ENST00000554638.5:n.1043G>T
ENST00000554897.5:c.*258G>T	ENSP00000450942.1:n.*258G>T
ENST00000554944.5:n.920G>T
ENST00000555020.5:n.727G>T
ENST00000555086.5:n.575G>T
ENST00000555214.5:n.392G>T
ENST00000556244.1:c.558G>T
ENST00000556278.1:c.316G>T	ENSP00000451792.1:p.Ala106Ser
ENST00000556494.5:n.692G>T
ENST00000557706.5:n.1133G>T
NM_000155.3:c.571G>T	NP_000146.2:p.Ala191Ser
NM_001258332.1:c.244G>T	NP_001245261.1:p.Ala82Ser
NM_000155.4:c.571G>T MANE Select	NP_000146.2:p.Ala191Ser
NM_001258332.2:c.244G>T	NP_001245261.1:p.Ala82Ser