Canonical Allele Identifier: CA5036116

Gene: GALT

Linked Data

• ClinVar Variation Id: 1663900
• ClinVar RCV Id: RCV002181607
• dbSNP Id: rs756647683
• ExAC: 9:34647823 A / T
• gnomAD v2: 9-34647823-A-T
• gnomAD v4: 9-34647826-A-T
• MyVariant Identifiers: chr9:g.34647823A>T (hg19) ; chr9:g.34647826A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647826A>T , CM000671.2:g.34647826A>T	GRCh38
NC_000009.11:g.34647823A>T , CM000671.1:g.34647823A>T	GRCh37
NC_000009.10:g.34637823A>T	NCBI36
NG_009029.1:g.6189A>T
NG_028966.1:g.642A>T
NG_009029.2:g.6238A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.329-6A>T	ENSP00000509954.1:n.329-6A>T
ENST00000378842.8:c.378-6A>T MANE Select	ENSP00000368119.4:n.378-6A>T
ENST00000378842.7:c.378-6A>T	ENSP00000368119.3:n.378-6A>T
ENST00000450095.6:c.51-6A>T	ENSP00000401956.2:n.51-6A>T
ENST00000465543.6:n.717-6A>T
ENST00000472111.5:n.628A>T
ENST00000473506.6:c.329-6A>T	ENSP00000432839.2:n.329-6A>T
ENST00000473529.5:n.514-6A>T
ENST00000485531.1:n.813A>T
ENST00000487381.5:n.757A>T
ENST00000489643.6:n.283-289A>T
ENST00000554085.5:c.*122-6A>T	ENSP00000450419.1:n.*122-6A>T
ENST00000554139.5:n.551A>T
ENST00000554330.5:n.535A>T
ENST00000554550.5:c.253-6A>T	ENSP00000451435.1:n.253-6A>T
ENST00000554638.5:n.844A>T
ENST00000554897.5:c.253-6A>T	ENSP00000450942.1:n.253-6A>T
ENST00000554944.5:n.568A>T
ENST00000555020.5:n.528A>T
ENST00000555086.5:n.382-6A>T
ENST00000555214.5:n.262-222A>T
ENST00000556244.1:c.365-6A>T
ENST00000556278.1:c.253-289A>T	ENSP00000451792.1:n.253-289A>T
ENST00000556494.5:n.499-6A>T
ENST00000557541.5:n.522-6A>T
ENST00000557706.5:n.934A>T
NM_000155.3:c.378-6A>T	NP_000146.2:n.378-6A>T
NM_001258332.1:c.51-6A>T	NP_001245261.1:n.51-6A>T
NM_000155.4:c.378-6A>T MANE Select	NP_000146.2:n.378-6A>T
NM_001258332.2:c.51-6A>T	NP_001245261.1:n.51-6A>T