Canonical Allele Identifier: CA373278679

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647179C>T (hg19) ; chr9:g.34647182C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647182C>T , CM000671.2:g.34647182C>T	GRCh38
NC_000009.11:g.34647179C>T , CM000671.1:g.34647179C>T	GRCh37
NC_000009.10:g.34637179C>T	NCBI36
NG_009029.1:g.5545C>T
NG_009029.2:g.5594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.176C>T	ENSP00000509954.1:p.Pro59Leu
ENST00000378842.8:c.176C>T MANE Select	ENSP00000368119.4:p.Pro59Leu
ENST00000378842.7:c.176C>T	ENSP00000368119.3:p.Pro59Leu
ENST00000450095.6:c.-27C>T	ENSP00000401956.2:n.-27C>T
ENST00000465543.6:n.515C>T
ENST00000468099.2:n.216C>T
ENST00000472111.5:n.217C>T
ENST00000473506.6:c.176C>T	ENSP00000432839.2:p.Pro59Leu
ENST00000473529.5:n.223C>T
ENST00000485531.1:n.169C>T
ENST00000487381.5:n.202C>T
ENST00000489643.6:n.206C>T
ENST00000554085.5:c.176C>T	ENSP00000450419.1:p.Pro59Leu
ENST00000554139.5:n.229C>T
ENST00000554330.5:n.173C>T
ENST00000554550.5:c.176C>T	ENSP00000451435.1:p.Pro59Leu
ENST00000554638.5:n.200C>T
ENST00000554897.5:c.176C>T	ENSP00000450942.1:p.Pro59Leu
ENST00000554944.5:n.206C>T
ENST00000555020.5:n.206C>T
ENST00000555086.5:n.180C>T
ENST00000555214.5:n.185C>T
ENST00000556157.1:n.283C>T
ENST00000556244.1:c.60C>T
ENST00000556278.1:c.176C>T	ENSP00000451792.1:p.Pro59Leu
ENST00000556403.5:n.189C>T
ENST00000556494.5:n.208C>T
ENST00000557541.5:n.369C>T
ENST00000557706.5:n.290C>T
NM_000155.3:c.176C>T	NP_000146.2:p.Pro59Leu
NM_001258332.1:c.-27C>T	NP_001245261.1:n.-27C>T
NM_000155.4:c.176C>T MANE Select	NP_000146.2:p.Pro59Leu
NM_001258332.2:c.-27C>T	NP_001245261.1:n.-27C>T