Canonical Allele Identifier: CA373278562

Gene: GALT

Linked Data

• dbSNP Id: rs1450493685
• gnomAD v2: 9-34647124-T-C
• gnomAD v4: 9-34647127-T-C
• MyVariant Identifiers: chr9:g.34647124T>C (hg19) ; chr9:g.34647127T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647127T>C , CM000671.2:g.34647127T>C	GRCh38
NC_000009.11:g.34647124T>C , CM000671.1:g.34647124T>C	GRCh37
NC_000009.10:g.34637124T>C	NCBI36
NG_009029.1:g.5490T>C
NG_009029.2:g.5539T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.121T>C	ENSP00000509954.1:p.Trp41Arg
ENST00000378842.8:c.121T>C MANE Select	ENSP00000368119.4:p.Trp41Arg
ENST00000378842.7:c.121T>C	ENSP00000368119.3:p.Trp41Arg
ENST00000450095.6:c.-82T>C	ENSP00000401956.2:n.-82T>C
ENST00000465543.6:n.460T>C
ENST00000468099.2:n.161T>C
ENST00000472111.5:n.162T>C
ENST00000473506.6:c.121T>C	ENSP00000432839.2:p.Trp41Arg
ENST00000473529.5:n.168T>C
ENST00000485531.1:n.114T>C
ENST00000487381.5:n.147T>C
ENST00000489643.6:n.151T>C
ENST00000554085.5:c.121T>C	ENSP00000450419.1:p.Trp41Arg
ENST00000554139.5:n.174T>C
ENST00000554330.5:n.118T>C
ENST00000554550.5:c.121T>C	ENSP00000451435.1:p.Trp41Arg
ENST00000554638.5:n.145T>C
ENST00000554897.5:c.121T>C	ENSP00000450942.1:p.Trp41Arg
ENST00000554944.5:n.151T>C
ENST00000555020.5:n.151T>C
ENST00000555086.5:n.125T>C
ENST00000555214.5:n.130T>C
ENST00000556157.1:n.228T>C
ENST00000556244.1:c.5T>C
ENST00000556278.1:c.121T>C	ENSP00000451792.1:p.Trp41Arg
ENST00000556403.5:n.134T>C
ENST00000556494.5:n.153T>C
ENST00000557541.5:n.314T>C
ENST00000557706.5:n.235T>C
ENST00000605275.1:n.659T>C
NM_000155.3:c.121T>C	NP_000146.2:p.Trp41Arg
NM_001258332.1:c.-82T>C	NP_001245261.1:n.-82T>C
NM_000155.4:c.121T>C MANE Select	NP_000146.2:p.Trp41Arg
NM_001258332.2:c.-82T>C	NP_001245261.1:n.-82T>C