Canonical Allele Identifier: CA5035982

Gene: GALT

Linked Data

• ClinVar Variation Id: 813464
• ClinVar RCV Id: RCV001004538
• dbSNP Id: rs771702963
• ExAC: 9:34646703 T / G
• gnomAD v2: 9-34646703-T-G
• gnomAD v4: 9-34646706-T-G
• MyVariant Identifiers: chr9:g.34646703T>G (hg19) ; chr9:g.34646706T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646706T>G , CM000671.2:g.34646706T>G	GRCh38
NC_000009.11:g.34646703T>G , CM000671.1:g.34646703T>G	GRCh37
NC_000009.10:g.34636703T>G	NCBI36
NG_009029.1:g.5069T>G
NG_009029.2:g.5118T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.2T>G	ENSP00000509954.1:p.Met1Arg
ENST00000378842.8:c.2T>G MANE Select	ENSP00000368119.4:p.Met1Arg
ENST00000378842.7:c.2T>G	ENSP00000368119.3:p.Met1Arg
ENST00000450095.6:c.-201T>G	ENSP00000401956.2:n.-201T>G
ENST00000465543.6:n.39T>G
ENST00000468099.2:n.74T>G
ENST00000472111.5:n.43T>G
ENST00000473506.6:c.2T>G	ENSP00000432839.2:p.Met1Arg
ENST00000473529.5:n.49T>G
ENST00000487381.5:n.28T>G
ENST00000489643.6:n.32T>G
ENST00000554085.5:c.2T>G	ENSP00000450419.1:p.Met1Arg
ENST00000554139.5:n.55T>G
ENST00000554550.5:c.2T>G	ENSP00000451435.1:p.Met1Arg
ENST00000554638.5:n.26T>G
ENST00000554897.5:c.2T>G	ENSP00000450942.1:p.Met1Arg
ENST00000554944.5:n.32T>G
ENST00000555020.5:n.32T>G
ENST00000555214.5:n.11T>G
ENST00000556278.1:c.2T>G	ENSP00000451792.1:p.Met1Arg
ENST00000557541.5:n.62T>G
ENST00000605275.1:n.238T>G
NM_000155.3:c.2T>G	NP_000146.2:p.Met1Arg
NM_001258332.1:c.-201T>G	NP_001245261.1:n.-201T>G
NM_000155.4:c.2T>G MANE Select	NP_000146.2:p.Met1Arg
NM_001258332.2:c.-201T>G	NP_001245261.1:n.-201T>G