Canonical Allele Identifier: CA345495990

Gene: HNRNPU

Linked Data

• MyVariant Identifiers: chr1:g.245026928G>C (hg19) ; chr1:g.244863626G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863626G>C , CM000663.2:g.244863626G>C	GRCh38
NC_000001.10:g.245026928G>C , CM000663.1:g.245026928G>C	GRCh37
NC_000001.9:g.243093551G>C	NCBI36
NG_042184.1:g.5900C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.312+48C>G
ENST00000283179.14:c.634+48C>G	ENSP00000283179.10:n.634+48C>G
ENST00000444376.7:c.634+48C>G	ENSP00000393151.2:n.634+48C>G
ENST00000476241.2:n.819+48C>G
ENST00000638475.1:c.418+48C>G	ENSP00000491305.1:n.418+48C>G
ENST00000638952.1:n.913C>G
ENST00000640056.1:c.28C>G	ENSP00000492620.1:p.Pro10Ala
ENST00000640218.2:c.682C>G MANE Select	ENSP00000491215.1:p.Pro228Ala
ENST00000640306.1:c.634+48C>G	ENSP00000491685.1:n.634+48C>G
ENST00000640440.1:c.334+48C>G	ENSP00000491263.1:n.334+48C>G
ENST00000649899.1:n.858+48C>G
ENST00000283179.13:c.682C>G	ENSP00000283179.9:p.Pro228Ala
ENST00000444376.6:c.634+48C>G	ENSP00000393151.2:n.634+48C>G
ENST00000476241.1:n.818+48C>G
NM_004501.3:c.634+48C>G	NP_004492.2:n.634+48C>G
NM_031844.2:c.682C>G	NP_114032.2:p.Pro228Ala
NM_031844.3:c.682C>G MANE Select	NP_114032.2:p.Pro228Ala