Canonical Allele Identifier: CA5036090

Gene: GALT

Linked Data

• ClinVar Variation Id: 2969925
• ClinVar RCV Id: RCV003822059
• dbSNP Id: rs753633826
• ExAC: 9:34647634 G / C
• gnomAD v2: 9-34647634-G-C
• gnomAD v3: 9-34647637-G-C
• gnomAD v4: 9-34647637-G-C
• MyVariant Identifiers: chr9:g.34647634G>C (hg19) ; chr9:g.34647637G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647637G>C , CM000671.2:g.34647637G>C	GRCh38
NC_000009.11:g.34647634G>C , CM000671.1:g.34647634G>C	GRCh37
NC_000009.10:g.34637634G>C	NCBI36
NG_009029.1:g.6000G>C
NG_028966.1:g.453G>C
NG_009029.2:g.6049G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.328+70G>C	ENSP00000509954.1:n.328+70G>C
ENST00000378842.8:c.329-20G>C MANE Select	ENSP00000368119.4:n.329-20G>C
ENST00000378842.7:c.329-20G>C	ENSP00000368119.3:n.329-20G>C
ENST00000450095.6:c.51-195G>C	ENSP00000401956.2:n.51-195G>C
ENST00000465543.6:n.668-20G>C
ENST00000472111.5:n.439G>C
ENST00000473506.6:c.280-20G>C	ENSP00000432839.2:n.280-20G>C
ENST00000473529.5:n.445G>C
ENST00000485531.1:n.624G>C
ENST00000487381.5:n.588-20G>C
ENST00000489643.6:n.282+379G>C
ENST00000554085.5:c.*73-20G>C	ENSP00000450419.1:n.*73-20G>C
ENST00000554139.5:n.382-20G>C
ENST00000554330.5:n.346G>C
ENST00000554550.5:c.253-195G>C	ENSP00000451435.1:n.253-195G>C
ENST00000554638.5:n.655G>C
ENST00000554897.5:c.253-195G>C	ENSP00000450942.1:n.253-195G>C
ENST00000554944.5:n.379G>C
ENST00000555020.5:n.359-20G>C
ENST00000555086.5:n.333-20G>C
ENST00000555214.5:n.261+379G>C
ENST00000556157.1:n.453-20G>C
ENST00000556244.1:c.316-20G>C
ENST00000556278.1:c.252+379G>C	ENSP00000451792.1:n.252+379G>C
ENST00000556403.5:n.411G>C
ENST00000556494.5:n.430G>C
ENST00000557541.5:n.473-20G>C
ENST00000557706.5:n.745G>C
NM_000155.3:c.329-20G>C	NP_000146.2:n.329-20G>C
NM_001258332.1:c.51-195G>C	NP_001245261.1:n.51-195G>C
NM_000155.4:c.329-20G>C MANE Select	NP_000146.2:n.329-20G>C
NM_001258332.2:c.51-195G>C	NP_001245261.1:n.51-195G>C