Canonical Allele Identifier: CA192669647

Gene: GALT

Linked Data

• dbSNP Id: rs924940876
• gnomAD v2: 9-34647776-G-A
• gnomAD v3: 9-34647779-G-A
• gnomAD v4: 9-34647779-G-A
• MyVariant Identifiers: chr9:g.34647776G>A (hg19) ; chr9:g.34647779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647779G>A , CM000671.2:g.34647779G>A	GRCh38
NC_000009.11:g.34647776G>A , CM000671.1:g.34647776G>A	GRCh37
NC_000009.10:g.34637776G>A	NCBI36
NG_009029.1:g.6142G>A
NG_028966.1:g.595G>A
NG_009029.2:g.6191G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.329-53G>A	ENSP00000509954.1:n.329-53G>A
ENST00000378842.8:c.378-53G>A MANE Select	ENSP00000368119.4:n.378-53G>A
ENST00000378842.7:c.378-53G>A	ENSP00000368119.3:n.378-53G>A
ENST00000450095.6:c.51-53G>A	ENSP00000401956.2:n.51-53G>A
ENST00000465543.6:n.717-53G>A
ENST00000472111.5:n.581G>A
ENST00000473506.6:c.329-53G>A	ENSP00000432839.2:n.329-53G>A
ENST00000473529.5:n.514-53G>A
ENST00000485531.1:n.766G>A
ENST00000487381.5:n.710G>A
ENST00000489643.6:n.283-336G>A
ENST00000554085.5:c.*122-53G>A	ENSP00000450419.1:n.*122-53G>A
ENST00000554139.5:n.504G>A
ENST00000554330.5:n.488G>A
ENST00000554550.5:c.253-53G>A	ENSP00000451435.1:n.253-53G>A
ENST00000554638.5:n.797G>A
ENST00000554897.5:c.253-53G>A	ENSP00000450942.1:n.253-53G>A
ENST00000554944.5:n.521G>A
ENST00000555020.5:n.481G>A
ENST00000555086.5:n.382-53G>A
ENST00000555214.5:n.262-269G>A
ENST00000556244.1:c.365-53G>A
ENST00000556278.1:c.253-336G>A	ENSP00000451792.1:n.253-336G>A
ENST00000556403.5:n.553G>A
ENST00000556494.5:n.499-53G>A
ENST00000557541.5:n.522-53G>A
ENST00000557706.5:n.887G>A
NM_000155.3:c.378-53G>A	NP_000146.2:n.378-53G>A
NM_001258332.1:c.51-53G>A	NP_001245261.1:n.51-53G>A
NM_000155.4:c.378-53G>A MANE Select	NP_000146.2:n.378-53G>A
NM_001258332.2:c.51-53G>A	NP_001245261.1:n.51-53G>A