Canonical Allele Identifier: CA373278705

Gene: GALT

Linked Data

• dbSNP Id: rs1482410758
• MyVariant Identifiers: chr9:g.34647192G>T (hg19) ; chr9:g.34647195G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647195G>T , CM000671.2:g.34647195G>T	GRCh38
NC_000009.11:g.34647192G>T , CM000671.1:g.34647192G>T	GRCh37
NC_000009.10:g.34637192G>T	NCBI36
NG_009029.1:g.5558G>T
NG_028966.1:g.11G>T
NG_009029.2:g.5607G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.189G>T	ENSP00000509954.1:p.Lys63Asn
ENST00000378842.8:c.189G>T MANE Select	ENSP00000368119.4:p.Lys63Asn
ENST00000378842.7:c.189G>T	ENSP00000368119.3:p.Lys63Asn
ENST00000450095.6:c.-14G>T	ENSP00000401956.2:n.-14G>T
ENST00000465543.6:n.528G>T
ENST00000468099.2:n.229G>T
ENST00000472111.5:n.230G>T
ENST00000473506.6:c.189G>T	ENSP00000432839.2:p.Lys63Asn
ENST00000473529.5:n.236G>T
ENST00000485531.1:n.182G>T
ENST00000487381.5:n.215G>T
ENST00000489643.6:n.219G>T
ENST00000554085.5:c.189G>T	ENSP00000450419.1:p.Lys63Asn
ENST00000554139.5:n.242G>T
ENST00000554330.5:n.186G>T
ENST00000554550.5:c.189G>T	ENSP00000451435.1:p.Lys63Asn
ENST00000554638.5:n.213G>T
ENST00000554897.5:c.189G>T	ENSP00000450942.1:p.Lys63Asn
ENST00000554944.5:n.219G>T
ENST00000555020.5:n.219G>T
ENST00000555086.5:n.193G>T
ENST00000555214.5:n.198G>T
ENST00000556157.1:n.296G>T
ENST00000556244.1:c.73G>T
ENST00000556278.1:c.189G>T	ENSP00000451792.1:p.Lys63Asn
ENST00000556403.5:n.202G>T
ENST00000556494.5:n.221G>T
ENST00000557541.5:n.382G>T
ENST00000557706.5:n.303G>T
NM_000155.3:c.189G>T	NP_000146.2:p.Lys63Asn
NM_001258332.1:c.-14G>T	NP_001245261.1:n.-14G>T
NM_000155.4:c.189G>T MANE Select	NP_000146.2:p.Lys63Asn
NM_001258332.2:c.-14G>T	NP_001245261.1:n.-14G>T