Canonical Allele Identifier: CA373284495

Gene: GALT

Linked Data

• ClinVar Variation Id: 1066966
• ClinVar RCV Id: RCV001378101
• dbSNP Id: rs1821187430
• MyVariant Identifiers: chr9:g.34649066A>G (hg19) ; chr9:g.34649069A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649069A>G , CM000671.2:g.34649069A>G	GRCh38
NC_000009.11:g.34649066A>G , CM000671.1:g.34649066A>G	GRCh37
NC_000009.10:g.34639066A>G	NCBI36
NG_009029.1:g.7432A>G
NG_028966.1:g.1885A>G
NG_009029.2:g.7481A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*480A>G	ENSP00000509954.1:n.*480A>G
ENST00000378842.8:c.892A>G MANE Select	ENSP00000368119.4:p.Met298Val
ENST00000378842.7:c.892A>G	ENSP00000368119.3:p.Met298Val
ENST00000450095.6:c.565A>G	ENSP00000401956.2:p.Met189Val
ENST00000488412.2:n.148A>G
ENST00000489643.6:n.972A>G
ENST00000554550.5:c.*512A>G	ENSP00000451435.1:n.*512A>G
ENST00000554638.5:n.1364A>G
ENST00000555020.5:n.1353A>G
ENST00000555086.5:n.999A>G
ENST00000555754.1:n.340A>G
ENST00000556278.1:c.432+613A>G	ENSP00000451792.1:n.432+613A>G
ENST00000557706.5:n.1467A>G
NM_000155.3:c.892A>G	NP_000146.2:p.Met298Val
NM_001258332.1:c.565A>G	NP_001245261.1:p.Met189Val
NM_000155.4:c.892A>G MANE Select	NP_000146.2:p.Met298Val
NM_001258332.2:c.565A>G	NP_001245261.1:p.Met189Val