Canonical Allele Identifier: CA373280077

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647550A>C (hg19) ; chr9:g.34647553A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647553A>C , CM000671.2:g.34647553A>C	GRCh38
NC_000009.11:g.34647550A>C , CM000671.1:g.34647550A>C	GRCh37
NC_000009.10:g.34637550A>C	NCBI36
NG_009029.1:g.5916A>C
NG_028966.1:g.369A>C
NG_009029.2:g.5965A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.314A>C	ENSP00000509954.1:p.Asp105Ala
ENST00000378842.8:c.314A>C MANE Select	ENSP00000368119.4:p.Asp105Ala
ENST00000378842.7:c.314A>C	ENSP00000368119.3:p.Asp105Ala
ENST00000450095.6:c.51-279A>C	ENSP00000401956.2:n.51-279A>C
ENST00000465543.6:n.653A>C
ENST00000472111.5:n.355A>C
ENST00000473506.6:c.265A>C	ENSP00000432839.2:p.Met89Leu
ENST00000473529.5:n.361A>C
ENST00000485531.1:n.540A>C
ENST00000487381.5:n.573A>C
ENST00000489643.6:n.282+295A>C
ENST00000554085.5:c.*58A>C	ENSP00000450419.1:n.*58A>C
ENST00000554139.5:n.367A>C
ENST00000554330.5:n.262A>C
ENST00000554550.5:c.253-279A>C	ENSP00000451435.1:n.253-279A>C
ENST00000554638.5:n.571A>C
ENST00000554897.5:c.253-279A>C	ENSP00000450942.1:n.253-279A>C
ENST00000554944.5:n.295A>C
ENST00000555020.5:n.344A>C
ENST00000555086.5:n.318A>C
ENST00000555214.5:n.261+295A>C
ENST00000556157.1:n.438A>C
ENST00000556244.1:c.301A>C
ENST00000556278.1:c.252+295A>C	ENSP00000451792.1:n.252+295A>C
ENST00000556403.5:n.327A>C
ENST00000556494.5:n.346A>C
ENST00000557541.5:n.458A>C
ENST00000557706.5:n.661A>C
NM_000155.3:c.314A>C	NP_000146.2:p.Asp105Ala
NM_001258332.1:c.51-279A>C	NP_001245261.1:n.51-279A>C
NM_000155.4:c.314A>C MANE Select	NP_000146.2:p.Asp105Ala
NM_001258332.2:c.51-279A>C	NP_001245261.1:n.51-279A>C