Canonical Allele Identifier: CA373282278

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648427T>C (hg19) ; chr9:g.34648430T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648430T>C , CM000671.2:g.34648430T>C	GRCh38
NC_000009.11:g.34648427T>C , CM000671.1:g.34648427T>C	GRCh37
NC_000009.10:g.34638427T>C	NCBI36
NG_009029.1:g.6793T>C
NG_028966.1:g.1246T>C
NG_009029.2:g.6842T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*249T>C	ENSP00000509954.1:n.*249T>C
ENST00000378842.8:c.661T>C MANE Select	ENSP00000368119.4:p.Tyr221His
ENST00000378842.7:c.661T>C	ENSP00000368119.3:p.Tyr221His
ENST00000450095.6:c.334T>C	ENSP00000401956.2:p.Tyr112His
ENST00000472111.5:n.917T>C
ENST00000473506.6:c.*249T>C	ENSP00000432839.2:n.*249T>C
ENST00000473529.5:n.820T>C
ENST00000487381.5:n.1046T>C
ENST00000489643.6:n.436T>C
ENST00000554085.5:c.*405T>C	ENSP00000450419.1:n.*405T>C
ENST00000554550.5:c.*281T>C	ENSP00000451435.1:n.*281T>C
ENST00000554638.5:n.1133T>C
ENST00000555020.5:n.817T>C
ENST00000555086.5:n.665T>C
ENST00000555214.5:n.482T>C
ENST00000555754.1:n.6T>C
ENST00000556244.1:c.648T>C
ENST00000556278.1:c.406T>C	ENSP00000451792.1:p.Tyr136His
ENST00000556494.5:n.782T>C
ENST00000557706.5:n.1223T>C
NM_000155.3:c.661T>C	NP_000146.2:p.Tyr221His
NM_001258332.1:c.334T>C	NP_001245261.1:p.Tyr112His
NM_000155.4:c.661T>C MANE Select	NP_000146.2:p.Tyr221His
NM_001258332.2:c.334T>C	NP_001245261.1:p.Tyr112His