Canonical Allele Identifier: CA5036176

Gene: GALT

Linked Data

• dbSNP Id: rs767859611
• ExAC: 9:34648405 T / G
• gnomAD v2: 9-34648405-T-G
• gnomAD v3: 9-34648408-T-G
• gnomAD v4: 9-34648408-T-G
• MyVariant Identifiers: chr9:g.34648405T>G (hg19) ; chr9:g.34648408T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648408T>G , CM000671.2:g.34648408T>G	GRCh38
NC_000009.11:g.34648405T>G , CM000671.1:g.34648405T>G	GRCh37
NC_000009.10:g.34638405T>G	NCBI36
NG_009029.1:g.6771T>G
NG_028966.1:g.1224T>G
NG_009029.2:g.6820T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*227T>G	ENSP00000509954.1:n.*227T>G
ENST00000378842.8:c.639T>G MANE Select	ENSP00000368119.4:p.His213Gln
ENST00000378842.7:c.639T>G	ENSP00000368119.3:p.His213Gln
ENST00000450095.6:c.312T>G	ENSP00000401956.2:p.His104Gln
ENST00000472111.5:n.895T>G
ENST00000473506.6:c.*227T>G	ENSP00000432839.2:n.*227T>G
ENST00000473529.5:n.798T>G
ENST00000487381.5:n.1024T>G
ENST00000489643.6:n.414T>G
ENST00000554085.5:c.*383T>G	ENSP00000450419.1:n.*383T>G
ENST00000554550.5:c.*259T>G	ENSP00000451435.1:n.*259T>G
ENST00000554638.5:n.1111T>G
ENST00000555020.5:n.795T>G
ENST00000555086.5:n.643T>G
ENST00000555214.5:n.460T>G
ENST00000556244.1:c.626T>G
ENST00000556278.1:c.384T>G	ENSP00000451792.1:p.His128Gln
ENST00000556494.5:n.760T>G
ENST00000557706.5:n.1201T>G
NM_000155.3:c.639T>G	NP_000146.2:p.His213Gln
NM_001258332.1:c.312T>G	NP_001245261.1:p.His104Gln
NM_000155.4:c.639T>G MANE Select	NP_000146.2:p.His213Gln
NM_001258332.2:c.312T>G	NP_001245261.1:p.His104Gln