Canonical Allele Identifier: CA587568171

Gene: GALT

Linked Data

• dbSNP Id: rs1394626101
• gnomAD v2: 9-34647291-C-G
• gnomAD v4: 9-34647294-C-G
• MyVariant Identifiers: chr9:g.34647291C>G (hg19) ; chr9:g.34647294C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647294C>G , CM000671.2:g.34647294C>G	GRCh38
NC_000009.11:g.34647291C>G , CM000671.1:g.34647291C>G	GRCh37
NC_000009.10:g.34637291C>G	NCBI36
NG_009029.1:g.5657C>G
NG_028966.1:g.110C>G
NG_009029.2:g.5706C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.252+36C>G	ENSP00000509954.1:n.252+36C>G
ENST00000378842.8:c.252+36C>G MANE Select	ENSP00000368119.4:n.252+36C>G
ENST00000378842.7:c.252+36C>G	ENSP00000368119.3:n.252+36C>G
ENST00000450095.6:c.50+36C>G	ENSP00000401956.2:n.50+36C>G
ENST00000465543.6:n.591+36C>G
ENST00000468099.2:n.328C>G
ENST00000472111.5:n.293+36C>G
ENST00000473506.6:c.252+36C>G	ENSP00000432839.2:n.252+36C>G
ENST00000473529.5:n.299+36C>G
ENST00000485531.1:n.281C>G
ENST00000487381.5:n.314C>G
ENST00000489643.6:n.282+36C>G
ENST00000554085.5:c.252+36C>G	ENSP00000450419.1:n.252+36C>G
ENST00000554139.5:n.305+36C>G
ENST00000554330.5:n.249+36C>G
ENST00000554550.5:c.252+36C>G	ENSP00000451435.1:n.252+36C>G
ENST00000554638.5:n.312C>G
ENST00000554897.5:c.252+36C>G	ENSP00000450942.1:n.252+36C>G
ENST00000554944.5:n.282+36C>G
ENST00000555020.5:n.282+36C>G
ENST00000555086.5:n.256+36C>G
ENST00000555214.5:n.261+36C>G
ENST00000556157.1:n.359+36C>G
ENST00000556244.1:c.136+36C>G
ENST00000556278.1:c.252+36C>G	ENSP00000451792.1:n.252+36C>G
ENST00000556403.5:n.265+36C>G
ENST00000556494.5:n.284+36C>G
ENST00000557541.5:n.445+36C>G
ENST00000557706.5:n.402C>G
NM_000155.3:c.252+36C>G	NP_000146.2:n.252+36C>G
NM_001258332.1:c.50+36C>G	NP_001245261.1:n.50+36C>G
NM_000155.4:c.252+36C>G MANE Select	NP_000146.2:n.252+36C>G
NM_001258332.2:c.50+36C>G	NP_001245261.1:n.50+36C>G