Canonical Allele Identifier: CA373282258

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648423G>T (hg19) ; chr9:g.34648426G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648426G>T , CM000671.2:g.34648426G>T	GRCh38
NC_000009.11:g.34648423G>T , CM000671.1:g.34648423G>T	GRCh37
NC_000009.10:g.34638423G>T	NCBI36
NG_009029.1:g.6789G>T
NG_028966.1:g.1242G>T
NG_009029.2:g.6838G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*245G>T	ENSP00000509954.1:n.*245G>T
ENST00000378842.8:c.657G>T MANE Select	ENSP00000368119.4:p.Met219Ile
ENST00000378842.7:c.657G>T	ENSP00000368119.3:p.Met219Ile
ENST00000450095.6:c.330G>T	ENSP00000401956.2:p.Met110Ile
ENST00000472111.5:n.913G>T
ENST00000473506.6:c.*245G>T	ENSP00000432839.2:n.*245G>T
ENST00000473529.5:n.816G>T
ENST00000487381.5:n.1042G>T
ENST00000489643.6:n.432G>T
ENST00000554085.5:c.*401G>T	ENSP00000450419.1:n.*401G>T
ENST00000554550.5:c.*277G>T	ENSP00000451435.1:n.*277G>T
ENST00000554638.5:n.1129G>T
ENST00000555020.5:n.813G>T
ENST00000555086.5:n.661G>T
ENST00000555214.5:n.478G>T
ENST00000555754.1:n.2G>T
ENST00000556244.1:c.644G>T
ENST00000556278.1:c.402G>T	ENSP00000451792.1:p.Met134Ile
ENST00000556494.5:n.778G>T
ENST00000557706.5:n.1219G>T
NM_000155.3:c.657G>T	NP_000146.2:p.Met219Ile
NM_001258332.1:c.330G>T	NP_001245261.1:p.Met110Ile
NM_000155.4:c.657G>T MANE Select	NP_000146.2:p.Met219Ile
NM_001258332.2:c.330G>T	NP_001245261.1:p.Met110Ile