Canonical Allele Identifier: CA863494782

Gene: GALT

Linked Data

• dbSNP Id: rs1457638177
• gnomAD v3: 9-34647301-A-C
• gnomAD v4: 9-34647301-A-C
• MyVariant Identifiers: chr9:g.34647298A>C (hg19) ; chr9:g.34647301A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647301A>C , CM000671.2:g.34647301A>C	GRCh38
NC_000009.11:g.34647298A>C , CM000671.1:g.34647298A>C	GRCh37
NC_000009.10:g.34637298A>C	NCBI36
NG_009029.1:g.5664A>C
NG_028966.1:g.117A>C
NG_009029.2:g.5713A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.252+43A>C	ENSP00000509954.1:n.252+43A>C
ENST00000378842.8:c.252+43A>C MANE Select	ENSP00000368119.4:n.252+43A>C
ENST00000378842.7:c.252+43A>C	ENSP00000368119.3:n.252+43A>C
ENST00000450095.6:c.50+43A>C	ENSP00000401956.2:n.50+43A>C
ENST00000465543.6:n.591+43A>C
ENST00000468099.2:n.335A>C
ENST00000472111.5:n.293+43A>C
ENST00000473506.6:c.252+43A>C	ENSP00000432839.2:n.252+43A>C
ENST00000473529.5:n.299+43A>C
ENST00000485531.1:n.288A>C
ENST00000487381.5:n.321A>C
ENST00000489643.6:n.282+43A>C
ENST00000554085.5:c.252+43A>C	ENSP00000450419.1:n.252+43A>C
ENST00000554139.5:n.305+43A>C
ENST00000554330.5:n.249+43A>C
ENST00000554550.5:c.252+43A>C	ENSP00000451435.1:n.252+43A>C
ENST00000554638.5:n.319A>C
ENST00000554897.5:c.252+43A>C	ENSP00000450942.1:n.252+43A>C
ENST00000554944.5:n.282+43A>C
ENST00000555020.5:n.282+43A>C
ENST00000555086.5:n.256+43A>C
ENST00000555214.5:n.261+43A>C
ENST00000556157.1:n.359+43A>C
ENST00000556244.1:c.136+43A>C
ENST00000556278.1:c.252+43A>C	ENSP00000451792.1:n.252+43A>C
ENST00000556403.5:n.265+43A>C
ENST00000556494.5:n.284+43A>C
ENST00000557541.5:n.445+43A>C
ENST00000557706.5:n.409A>C
NM_000155.3:c.252+43A>C	NP_000146.2:n.252+43A>C
NM_001258332.1:c.50+43A>C	NP_001245261.1:n.50+43A>C
NM_000155.4:c.252+43A>C MANE Select	NP_000146.2:n.252+43A>C
NM_001258332.2:c.50+43A>C	NP_001245261.1:n.50+43A>C