Canonical Allele Identifier: CA373278571

Gene: GALT

Linked Data

• dbSNP Id: rs1564100650
• MyVariant Identifiers: chr9:g.34647127G>T (hg19) ; chr9:g.34647130G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647130G>T , CM000671.2:g.34647130G>T	GRCh38
NC_000009.11:g.34647127G>T , CM000671.1:g.34647127G>T	GRCh37
NC_000009.10:g.34637127G>T	NCBI36
NG_009029.1:g.5493G>T
NG_009029.2:g.5542G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.124G>T	ENSP00000509954.1:p.Val42Leu
ENST00000378842.8:c.124G>T MANE Select	ENSP00000368119.4:p.Val42Leu
ENST00000378842.7:c.124G>T	ENSP00000368119.3:p.Val42Leu
ENST00000450095.6:c.-79G>T	ENSP00000401956.2:n.-79G>T
ENST00000465543.6:n.463G>T
ENST00000468099.2:n.164G>T
ENST00000472111.5:n.165G>T
ENST00000473506.6:c.124G>T	ENSP00000432839.2:p.Val42Leu
ENST00000473529.5:n.171G>T
ENST00000485531.1:n.117G>T
ENST00000487381.5:n.150G>T
ENST00000489643.6:n.154G>T
ENST00000554085.5:c.124G>T	ENSP00000450419.1:p.Val42Leu
ENST00000554139.5:n.177G>T
ENST00000554330.5:n.121G>T
ENST00000554550.5:c.124G>T	ENSP00000451435.1:p.Val42Leu
ENST00000554638.5:n.148G>T
ENST00000554897.5:c.124G>T	ENSP00000450942.1:p.Val42Leu
ENST00000554944.5:n.154G>T
ENST00000555020.5:n.154G>T
ENST00000555086.5:n.128G>T
ENST00000555214.5:n.133G>T
ENST00000556157.1:n.231G>T
ENST00000556244.1:c.8G>T
ENST00000556278.1:c.124G>T	ENSP00000451792.1:p.Val42Leu
ENST00000556403.5:n.137G>T
ENST00000556494.5:n.156G>T
ENST00000557541.5:n.317G>T
ENST00000557706.5:n.238G>T
ENST00000605275.1:n.662G>T
NM_000155.3:c.124G>T	NP_000146.2:p.Val42Leu
NM_001258332.1:c.-79G>T	NP_001245261.1:n.-79G>T
NM_000155.4:c.124G>T MANE Select	NP_000146.2:p.Val42Leu
NM_001258332.2:c.-79G>T	NP_001245261.1:n.-79G>T