Canonical Allele Identifier: CA373282432

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648453G>C (hg19) ; chr9:g.34648456G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648456G>C , CM000671.2:g.34648456G>C	GRCh38
NC_000009.11:g.34648453G>C , CM000671.1:g.34648453G>C	GRCh37
NC_000009.10:g.34638453G>C	NCBI36
NG_009029.1:g.6819G>C
NG_028966.1:g.1272G>C
NG_009029.2:g.6868G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*275G>C	ENSP00000509954.1:n.*275G>C
ENST00000378842.8:c.687G>C MANE Select	ENSP00000368119.4:p.Lys229Asn
ENST00000378842.7:c.687G>C	ENSP00000368119.3:p.Lys229Asn
ENST00000450095.6:c.360G>C	ENSP00000401956.2:p.Lys120Asn
ENST00000472111.5:n.943G>C
ENST00000473506.6:c.*275G>C	ENSP00000432839.2:n.*275G>C
ENST00000473529.5:n.846G>C
ENST00000487381.5:n.1072G>C
ENST00000489643.6:n.462G>C
ENST00000554085.5:c.*431G>C	ENSP00000450419.1:n.*431G>C
ENST00000554550.5:c.*307G>C	ENSP00000451435.1:n.*307G>C
ENST00000554638.5:n.1159G>C
ENST00000555020.5:n.843G>C
ENST00000555086.5:n.691G>C
ENST00000555214.5:n.508G>C
ENST00000555754.1:n.32G>C
ENST00000556244.1:c.674G>C
ENST00000556278.1:c.432G>C	ENSP00000451792.1:p.Lys144Asn
ENST00000556494.5:n.808G>C
ENST00000557706.5:n.1249G>C
NM_000155.3:c.687G>C	NP_000146.2:p.Lys229Asn
NM_001258332.1:c.360G>C	NP_001245261.1:p.Lys120Asn
NM_000155.4:c.687G>C MANE Select	NP_000146.2:p.Lys229Asn
NM_001258332.2:c.360G>C	NP_001245261.1:p.Lys120Asn