Canonical Allele Identifier: CA373279138

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647507A>C (hg19) ; chr9:g.34647510A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647510A>C , CM000671.2:g.34647510A>C	GRCh38
NC_000009.11:g.34647507A>C , CM000671.1:g.34647507A>C	GRCh37
NC_000009.10:g.34637507A>C	NCBI36
NG_009029.1:g.5873A>C
NG_028966.1:g.326A>C
NG_009029.2:g.5922A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.271A>C	ENSP00000509954.1:p.Ser91Arg
ENST00000378842.8:c.271A>C MANE Select	ENSP00000368119.4:p.Ser91Arg
ENST00000378842.7:c.271A>C	ENSP00000368119.3:p.Ser91Arg
ENST00000450095.6:c.50+252A>C	ENSP00000401956.2:n.50+252A>C
ENST00000465543.6:n.610A>C
ENST00000468099.2:n.544A>C
ENST00000472111.5:n.312A>C
ENST00000473506.6:c.253-31A>C	ENSP00000432839.2:n.253-31A>C
ENST00000473529.5:n.318A>C
ENST00000485531.1:n.497A>C
ENST00000487381.5:n.530A>C
ENST00000489643.6:n.282+252A>C
ENST00000554085.5:c.*15A>C	ENSP00000450419.1:n.*15A>C
ENST00000554139.5:n.324A>C
ENST00000554330.5:n.250-31A>C
ENST00000554550.5:c.252+252A>C	ENSP00000451435.1:n.252+252A>C
ENST00000554638.5:n.528A>C
ENST00000554897.5:c.252+252A>C	ENSP00000450942.1:n.252+252A>C
ENST00000554944.5:n.283-31A>C
ENST00000555020.5:n.301A>C
ENST00000555086.5:n.275A>C
ENST00000555214.5:n.261+252A>C
ENST00000556157.1:n.395A>C
ENST00000556244.1:c.258A>C
ENST00000556278.1:c.252+252A>C	ENSP00000451792.1:n.252+252A>C
ENST00000556403.5:n.284A>C
ENST00000556494.5:n.303A>C
ENST00000557541.5:n.446-31A>C
ENST00000557706.5:n.618A>C
NM_000155.3:c.271A>C	NP_000146.2:p.Ser91Arg
NM_001258332.1:c.50+252A>C	NP_001245261.1:n.50+252A>C
NM_000155.4:c.271A>C MANE Select	NP_000146.2:p.Ser91Arg
NM_001258332.2:c.50+252A>C	NP_001245261.1:n.50+252A>C