Canonical Allele Identifier: CA464595813

Gene: GALT

Linked Data

• COSMIC: COSM487403
• MyVariant Identifiers: chr9:g.34647664T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647667T>C , CM000671.2:g.34647667T>C	GRCh38
NC_000009.11:g.34647664T>C , CM000671.1:g.34647664T>C	GRCh37
NC_000009.10:g.34637664T>C	NCBI36
NG_009029.1:g.6030T>C
NG_028966.1:g.483T>C
NG_009029.2:g.6079T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.328+100T>C	ENSP00000509954.1:n.328+100T>C
ENST00000378842.8:c.339T>C MANE Select	ENSP00000368119.4:p.Asp113=
ENST00000378842.7:c.339T>C	ENSP00000368119.3:p.Asp113=
ENST00000450095.6:c.51-165T>C	ENSP00000401956.2:n.51-165T>C
ENST00000465543.6:n.678T>C
ENST00000472111.5:n.469T>C
ENST00000473506.6:c.290T>C	ENSP00000432839.2:p.Ile97Thr
ENST00000473529.5:n.475T>C
ENST00000485531.1:n.654T>C
ENST00000487381.5:n.598T>C
ENST00000489643.6:n.282+409T>C
ENST00000554085.5:c.*83T>C	ENSP00000450419.1:n.*83T>C
ENST00000554139.5:n.392T>C
ENST00000554330.5:n.376T>C
ENST00000554550.5:c.253-165T>C	ENSP00000451435.1:n.253-165T>C
ENST00000554638.5:n.685T>C
ENST00000554897.5:c.253-165T>C	ENSP00000450942.1:n.253-165T>C
ENST00000554944.5:n.409T>C
ENST00000555020.5:n.369T>C
ENST00000555086.5:n.343T>C
ENST00000555214.5:n.262-381T>C
ENST00000556157.1:n.463T>C
ENST00000556244.1:c.326T>C
ENST00000556278.1:c.252+409T>C	ENSP00000451792.1:n.252+409T>C
ENST00000556403.5:n.441T>C
ENST00000556494.5:n.460T>C
ENST00000557541.5:n.483T>C
ENST00000557706.5:n.775T>C
NM_000155.3:c.339T>C	NP_000146.2:p.Asp113=
NM_001258332.1:c.51-165T>C	NP_001245261.1:n.51-165T>C
NM_000155.4:c.339T>C MANE Select	NP_000146.2:p.Asp113=
NM_001258332.2:c.51-165T>C	NP_001245261.1:n.51-165T>C