Canonical Allele Identifier: CA259475

Gene: GALT

Linked Data

• dbSNP Id: rs111033753
• MyVariant Identifiers: chr9:g.34648453G>T (hg19) ; chr9:g.34648456G>T (hg38)
• PubMed: PMID:15841485

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648456G>T , CM000671.2:g.34648456G>T	GRCh38
NC_000009.11:g.34648453G>T , CM000671.1:g.34648453G>T	GRCh37
NC_000009.10:g.34638453G>T	NCBI36
NG_009029.1:g.6819G>T
NG_028966.1:g.1272G>T
NG_009029.2:g.6868G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*275G>T	ENSP00000509954.1:n.*275G>T
ENST00000378842.8:c.687G>T MANE Select	ENSP00000368119.4:p.Lys229Asn
ENST00000378842.7:c.687G>T	ENSP00000368119.3:p.Lys229Asn
ENST00000450095.6:c.360G>T	ENSP00000401956.2:p.Lys120Asn
ENST00000472111.5:n.943G>T
ENST00000473506.6:c.*275G>T	ENSP00000432839.2:n.*275G>T
ENST00000473529.5:n.846G>T
ENST00000487381.5:n.1072G>T
ENST00000489643.6:n.462G>T
ENST00000554085.5:c.*431G>T	ENSP00000450419.1:n.*431G>T
ENST00000554550.5:c.*307G>T	ENSP00000451435.1:n.*307G>T
ENST00000554638.5:n.1159G>T
ENST00000555020.5:n.843G>T
ENST00000555086.5:n.691G>T
ENST00000555214.5:n.508G>T
ENST00000555754.1:n.32G>T
ENST00000556244.1:c.674G>T
ENST00000556278.1:c.432G>T	ENSP00000451792.1:p.Lys144Asn
ENST00000556494.5:n.808G>T
ENST00000557706.5:n.1249G>T
NM_000155.3:c.687G>T	NP_000146.2:p.Lys229Asn
NM_001258332.1:c.360G>T	NP_001245261.1:p.Lys120Asn
NM_000155.4:c.687G>T MANE Select	NP_000146.2:p.Lys229Asn
NM_001258332.2:c.360G>T	NP_001245261.1:p.Lys120Asn