Canonical Allele Identifier: CA373281832

Gene: GALT

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*159G>C	ENSP00000509954.1:n.*159G>C
ENST00000378842.8:c.571G>C MANE Select	ENSP00000368119.4:p.Ala191Pro
ENST00000378842.7:c.571G>C	ENSP00000368119.3:p.Ala191Pro
ENST00000450095.6:c.244G>C	ENSP00000401956.2:p.Ala82Pro
ENST00000472111.5:n.827G>C
ENST00000473506.6:c.*159G>C	ENSP00000432839.2:n.*159G>C
ENST00000473529.5:n.730G>C
ENST00000485531.1:n.1165G>C
ENST00000487381.5:n.956G>C
ENST00000489643.6:n.346G>C
ENST00000554085.5:c.*315G>C	ENSP00000450419.1:n.*315G>C
ENST00000554139.5:n.817G>C
ENST00000554550.5:c.*191G>C	ENSP00000451435.1:n.*191G>C
ENST00000554638.5:n.1043G>C
ENST00000554897.5:c.*258G>C	ENSP00000450942.1:n.*258G>C
ENST00000554944.5:n.920G>C
ENST00000555020.5:n.727G>C
ENST00000555086.5:n.575G>C
ENST00000555214.5:n.392G>C
ENST00000556244.1:c.558G>C
ENST00000556278.1:c.316G>C	ENSP00000451792.1:p.Ala106Pro
ENST00000556494.5:n.692G>C
ENST00000557706.5:n.1133G>C
NM_000155.3:c.571G>C	NP_000146.2:p.Ala191Pro
NM_001258332.1:c.244G>C	NP_001245261.1:p.Ala82Pro
NM_000155.4:c.571G>C MANE Select	NP_000146.2:p.Ala191Pro
NM_001258332.2:c.244G>C	NP_001245261.1:p.Ala82Pro