Canonical Allele Identifier: CA464595606

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647491G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647494G>C , CM000671.2:g.34647494G>C	GRCh38
NC_000009.11:g.34647491G>C , CM000671.1:g.34647491G>C	GRCh37
NC_000009.10:g.34637491G>C	NCBI36
NG_009029.1:g.5857G>C
NG_028966.1:g.310G>C
NG_009029.2:g.5906G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.255G>C	ENSP00000509954.1:p.Val85=
ENST00000378842.8:c.255G>C MANE Select	ENSP00000368119.4:p.Val85=
ENST00000378842.7:c.255G>C	ENSP00000368119.3:p.Val85=
ENST00000450095.6:c.50+236G>C	ENSP00000401956.2:n.50+236G>C
ENST00000465543.6:n.594G>C
ENST00000468099.2:n.528G>C
ENST00000472111.5:n.296G>C
ENST00000473506.6:c.253-47G>C	ENSP00000432839.2:n.253-47G>C
ENST00000473529.5:n.302G>C
ENST00000485531.1:n.481G>C
ENST00000487381.5:n.514G>C
ENST00000489643.6:n.282+236G>C
ENST00000554085.5:c.272G>C	ENSP00000450419.1:p.Ter91Ser
ENST00000554139.5:n.308G>C
ENST00000554330.5:n.250-47G>C
ENST00000554550.5:c.252+236G>C	ENSP00000451435.1:n.252+236G>C
ENST00000554638.5:n.512G>C
ENST00000554897.5:c.252+236G>C	ENSP00000450942.1:n.252+236G>C
ENST00000554944.5:n.283-47G>C
ENST00000555020.5:n.285G>C
ENST00000555086.5:n.259G>C
ENST00000555214.5:n.261+236G>C
ENST00000556157.1:n.379G>C
ENST00000556244.1:c.242G>C
ENST00000556278.1:c.252+236G>C	ENSP00000451792.1:n.252+236G>C
ENST00000556403.5:n.268G>C
ENST00000556494.5:n.287G>C
ENST00000557541.5:n.446-47G>C
ENST00000557706.5:n.602G>C
NM_000155.3:c.255G>C	NP_000146.2:p.Val85=
NM_001258332.1:c.50+236G>C	NP_001245261.1:n.50+236G>C
NM_000155.4:c.255G>C MANE Select	NP_000146.2:p.Val85=
NM_001258332.2:c.50+236G>C	NP_001245261.1:n.50+236G>C