Canonical Allele Identifier: CA373278785

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647225G>C (hg19) ; chr9:g.34647228G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647228G>C , CM000671.2:g.34647228G>C	GRCh38
NC_000009.11:g.34647225G>C , CM000671.1:g.34647225G>C	GRCh37
NC_000009.10:g.34637225G>C	NCBI36
NG_009029.1:g.5591G>C
NG_028966.1:g.44G>C
NG_009029.2:g.5640G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.222G>C	ENSP00000509954.1:p.Leu74=
ENST00000378842.8:c.222G>C MANE Select	ENSP00000368119.4:p.Leu74=
ENST00000378842.7:c.222G>C	ENSP00000368119.3:p.Leu74=
ENST00000450095.6:c.20G>C	ENSP00000401956.2:p.Cys7Ser
ENST00000465543.6:n.561G>C
ENST00000468099.2:n.262G>C
ENST00000472111.5:n.263G>C
ENST00000473506.6:c.222G>C	ENSP00000432839.2:p.Leu74=
ENST00000473529.5:n.269G>C
ENST00000485531.1:n.215G>C
ENST00000487381.5:n.248G>C
ENST00000489643.6:n.252G>C
ENST00000554085.5:c.222G>C	ENSP00000450419.1:p.Leu74=
ENST00000554139.5:n.275G>C
ENST00000554330.5:n.219G>C
ENST00000554550.5:c.222G>C	ENSP00000451435.1:p.Leu74=
ENST00000554638.5:n.246G>C
ENST00000554897.5:c.222G>C	ENSP00000450942.1:p.Leu74=
ENST00000554944.5:n.252G>C
ENST00000555020.5:n.252G>C
ENST00000555086.5:n.226G>C
ENST00000555214.5:n.231G>C
ENST00000556157.1:n.329G>C
ENST00000556244.1:c.106G>C
ENST00000556278.1:c.222G>C	ENSP00000451792.1:p.Leu74=
ENST00000556403.5:n.235G>C
ENST00000556494.5:n.254G>C
ENST00000557541.5:n.415G>C
ENST00000557706.5:n.336G>C
NM_000155.3:c.222G>C	NP_000146.2:p.Leu74=
NM_001258332.1:c.20G>C	NP_001245261.1:p.Cys7Ser
NM_000155.4:c.222G>C MANE Select	NP_000146.2:p.Leu74=
NM_001258332.2:c.20G>C	NP_001245261.1:p.Cys7Ser