Canonical Allele Identifier: CA373282414

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648450G>C (hg19) ; chr9:g.34648453G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648453G>C , CM000671.2:g.34648453G>C	GRCh38
NC_000009.11:g.34648450G>C , CM000671.1:g.34648450G>C	GRCh37
NC_000009.10:g.34638450G>C	NCBI36
NG_009029.1:g.6816G>C
NG_028966.1:g.1269G>C
NG_009029.2:g.6865G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*272G>C	ENSP00000509954.1:n.*272G>C
ENST00000378842.8:c.684G>C MANE Select	ENSP00000368119.4:p.Arg228Ser
ENST00000378842.7:c.684G>C	ENSP00000368119.3:p.Arg228Ser
ENST00000450095.6:c.357G>C	ENSP00000401956.2:p.Arg119Ser
ENST00000472111.5:n.940G>C
ENST00000473506.6:c.*272G>C	ENSP00000432839.2:n.*272G>C
ENST00000473529.5:n.843G>C
ENST00000487381.5:n.1069G>C
ENST00000489643.6:n.459G>C
ENST00000554085.5:c.*428G>C	ENSP00000450419.1:n.*428G>C
ENST00000554550.5:c.*304G>C	ENSP00000451435.1:n.*304G>C
ENST00000554638.5:n.1156G>C
ENST00000555020.5:n.840G>C
ENST00000555086.5:n.688G>C
ENST00000555214.5:n.505G>C
ENST00000555754.1:n.29G>C
ENST00000556244.1:c.671G>C
ENST00000556278.1:c.429G>C	ENSP00000451792.1:p.Arg143Ser
ENST00000556494.5:n.805G>C
ENST00000557706.5:n.1246G>C
NM_000155.3:c.684G>C	NP_000146.2:p.Arg228Ser
NM_001258332.1:c.357G>C	NP_001245261.1:p.Arg119Ser
NM_000155.4:c.684G>C MANE Select	NP_000146.2:p.Arg228Ser
NM_001258332.2:c.357G>C	NP_001245261.1:p.Arg119Ser