Canonical Allele Identifier: CA373281409

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648126A>C (hg19) ; chr9:g.34648129A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648129A>C , CM000671.2:g.34648129A>C	GRCh38
NC_000009.11:g.34648126A>C , CM000671.1:g.34648126A>C	GRCh37
NC_000009.10:g.34638126A>C	NCBI36
NG_009029.1:g.6492A>C
NG_028966.1:g.945A>C
NG_009029.2:g.6541A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*110A>C	ENSP00000509954.1:n.*110A>C
ENST00000378842.8:c.522A>C MANE Select	ENSP00000368119.4:p.Lys174Asn
ENST00000378842.7:c.522A>C	ENSP00000368119.3:p.Lys174Asn
ENST00000450095.6:c.195A>C	ENSP00000401956.2:p.Lys65Asn
ENST00000465543.6:n.861A>C
ENST00000472111.5:n.778A>C
ENST00000473506.6:c.*110A>C	ENSP00000432839.2:n.*110A>C
ENST00000473529.5:n.681A>C
ENST00000485531.1:n.1116A>C
ENST00000487381.5:n.907A>C
ENST00000489643.6:n.297A>C
ENST00000554085.5:c.*266A>C	ENSP00000450419.1:n.*266A>C
ENST00000554139.5:n.768A>C
ENST00000554550.5:c.*142A>C	ENSP00000451435.1:n.*142A>C
ENST00000554638.5:n.994A>C
ENST00000554897.5:c.*209A>C	ENSP00000450942.1:n.*209A>C
ENST00000554944.5:n.871A>C
ENST00000555020.5:n.678A>C
ENST00000555086.5:n.526A>C
ENST00000555214.5:n.343A>C
ENST00000556244.1:c.509A>C
ENST00000556278.1:c.267A>C	ENSP00000451792.1:p.Lys89Asn
ENST00000556494.5:n.643A>C
ENST00000557706.5:n.1084A>C
NM_000155.3:c.522A>C	NP_000146.2:p.Lys174Asn
NM_001258332.1:c.195A>C	NP_001245261.1:p.Lys65Asn
NM_000155.4:c.522A>C MANE Select	NP_000146.2:p.Lys174Asn
NM_001258332.2:c.195A>C	NP_001245261.1:p.Lys65Asn