Canonical Allele Identifier: CA5036052

Gene: GALT

Linked Data

• dbSNP Id: rs140206894
• ExAC: 9:34647350 C / T
• gnomAD v2: 9-34647350-C-T
• gnomAD v3: 9-34647353-C-T
• gnomAD v4: 9-34647353-C-T
• MyVariant Identifiers: chr9:g.34647350C>T (hg19) ; chr9:g.34647353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647353C>T , CM000671.2:g.34647353C>T	GRCh38
NC_000009.11:g.34647350C>T , CM000671.1:g.34647350C>T	GRCh37
NC_000009.10:g.34637350C>T	NCBI36
NG_009029.1:g.5716C>T
NG_028966.1:g.169C>T
NG_009029.2:g.5765C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.252+95C>T	ENSP00000509954.1:n.252+95C>T
ENST00000378842.8:c.252+95C>T MANE Select	ENSP00000368119.4:n.252+95C>T
ENST00000378842.7:c.252+95C>T	ENSP00000368119.3:n.252+95C>T
ENST00000450095.6:c.50+95C>T	ENSP00000401956.2:n.50+95C>T
ENST00000465543.6:n.591+95C>T
ENST00000468099.2:n.387C>T
ENST00000472111.5:n.293+95C>T
ENST00000473506.6:c.252+95C>T	ENSP00000432839.2:n.252+95C>T
ENST00000473529.5:n.299+95C>T
ENST00000485531.1:n.340C>T
ENST00000487381.5:n.373C>T
ENST00000489643.6:n.282+95C>T
ENST00000554085.5:c.252+95C>T	ENSP00000450419.1:n.252+95C>T
ENST00000554139.5:n.305+95C>T
ENST00000554330.5:n.249+95C>T
ENST00000554550.5:c.252+95C>T	ENSP00000451435.1:n.252+95C>T
ENST00000554638.5:n.371C>T
ENST00000554897.5:c.252+95C>T	ENSP00000450942.1:n.252+95C>T
ENST00000554944.5:n.282+95C>T
ENST00000555020.5:n.282+95C>T
ENST00000555086.5:n.256+95C>T
ENST00000555214.5:n.261+95C>T
ENST00000556157.1:n.359+95C>T
ENST00000556244.1:c.137-36C>T
ENST00000556278.1:c.252+95C>T	ENSP00000451792.1:n.252+95C>T
ENST00000556403.5:n.265+95C>T
ENST00000556494.5:n.284+95C>T
ENST00000557541.5:n.445+95C>T
ENST00000557706.5:n.461C>T
NM_000155.3:c.252+95C>T	NP_000146.2:n.252+95C>T
NM_001258332.1:c.50+95C>T	NP_001245261.1:n.50+95C>T
NM_000155.4:c.252+95C>T MANE Select	NP_000146.2:n.252+95C>T
NM_001258332.2:c.50+95C>T	NP_001245261.1:n.50+95C>T