Canonical Allele Identifier: CA373278218
Community Standard Title: NM_000155.4(GALT):c.19G>T (p.Asp7Tyr)
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646723G>T , CM000671.2:g.34646723G>T GRCh38
NC_000009.11:g.34646720G>T , CM000671.1:g.34646720G>T GRCh37
NC_000009.10:g.34636720G>T NCBI36
NG_009029.1:g.5086G>T
NG_009029.2:g.5135G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000155.4:c.19G>T MANE Select NP_000146.2:p.Asp7Tyr
ENST00000378842.8:c.19G>T MANE Select ENSP00000368119.4:p.Asp7Tyr
NM_000155.3:c.19G>T NP_000146.2:p.Asp7Tyr
NM_001258332.1:c.-184G>T NP_001245261.1:n.-184G>T
NM_001258332.2:c.-184G>T NP_001245261.1:n.-184G>T
ENST00000378842.7:c.19G>T ENSP00000368119.3:p.Asp7Tyr
ENST00000450095.6:c.-184G>T ENSP00000401956.2:n.-184G>T
ENST00000465543.6:n.56G>T
ENST00000468099.2:n.91G>T
ENST00000472111.5:n.60G>T
ENST00000473506.6:c.19G>T ENSP00000432839.2:p.Asp7Tyr
ENST00000473529.5:n.66G>T
ENST00000487381.5:n.45G>T
ENST00000489643.6:n.49G>T
ENST00000554085.5:c.19G>T ENSP00000450419.1:p.Asp7Tyr
ENST00000554139.5:n.72G>T
ENST00000554550.5:c.19G>T ENSP00000451435.1:p.Asp7Tyr
ENST00000554638.5:n.43G>T
ENST00000554897.5:c.19G>T ENSP00000450942.1:p.Asp7Tyr
ENST00000554944.5:n.49G>T
ENST00000555020.5:n.49G>T
ENST00000555214.5:n.28G>T
ENST00000556278.1:c.19G>T ENSP00000451792.1:p.Asp7Tyr
ENST00000557541.5:n.79G>T
ENST00000605275.1:n.255G>T
ENST00000691183.1:c.19G>T ENSP00000509954.1:p.Asp7Tyr