Canonical Allele Identifier: CA373283762

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648817G>C (hg19) ; chr9:g.34648820G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648820G>C , CM000671.2:g.34648820G>C	GRCh38
NC_000009.11:g.34648817G>C , CM000671.1:g.34648817G>C	GRCh37
NC_000009.10:g.34638817G>C	NCBI36
NG_009029.1:g.7183G>C
NG_028966.1:g.1636G>C
NG_009029.2:g.7232G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*334G>C	ENSP00000509954.1:n.*334G>C
ENST00000378842.8:c.746G>C MANE Select	ENSP00000368119.4:p.Trp249Ser
ENST00000378842.7:c.746G>C	ENSP00000368119.3:p.Trp249Ser
ENST00000450095.6:c.419G>C	ENSP00000401956.2:p.Trp140Ser
ENST00000473506.6:c.*334G>C	ENSP00000432839.2:n.*334G>C
ENST00000473529.5:n.905G>C
ENST00000487381.5:n.1436G>C
ENST00000489643.6:n.826G>C
ENST00000554085.5:c.*490G>C	ENSP00000450419.1:n.*490G>C
ENST00000554550.5:c.*366G>C	ENSP00000451435.1:n.*366G>C
ENST00000554638.5:n.1218G>C
ENST00000555020.5:n.1207G>C
ENST00000555086.5:n.750G>C
ENST00000555754.1:n.91G>C
ENST00000556244.1:c.733G>C
ENST00000556278.1:c.432+364G>C	ENSP00000451792.1:n.432+364G>C
ENST00000557706.5:n.1308G>C
NM_000155.3:c.746G>C	NP_000146.2:p.Trp249Ser
NM_001258332.1:c.419G>C	NP_001245261.1:p.Trp140Ser
NM_000155.4:c.746G>C MANE Select	NP_000146.2:p.Trp249Ser
NM_001258332.2:c.419G>C	NP_001245261.1:p.Trp140Ser