Canonical Allele Identifier: CA504874644
Gene: BSG HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.580433C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.580433C>G , CM000681.2:g.580433C>G GRCh38
NC_000019.9:g.580433C>G , CM000681.1:g.580433C>G GRCh37
NC_000019.8:g.531433C>G NCBI36
NG_007468.1:g.14109C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000333511.9:c.627C>G MANE Select ENSP00000333769.3:p.Pro209=
ENST00000346916.9:c.-1C>G ENSP00000344707.4:n.-1C>G
ENST00000353555.9:c.279C>G ENSP00000343809.4:p.Pro93=
ENST00000571735.3:n.862C>G
ENST00000572899.6:n.320C>G
ENST00000573784.6:c.-1C>G ENSP00000473393.2:n.-1C>G
ENST00000576925.4:n.1064C>G
ENST00000576984.3:c.-1C>G ENSP00000473528.2:n.-1C>G
ENST00000613627.5:c.122C>G ENSP00000484849.2:p.Pro41Arg
ENST00000618112.4:c.279C>G ENSP00000495088.2:p.Pro93=
ENST00000679472.1:c.-1C>G ENSP00000505067.1:n.-1C>G
ENST00000680065.1:c.-1C>G ENSP00000506020.1:n.-1C>G
ENST00000680326.1:c.270C>G ENSP00000505863.1:p.Pro90=
ENST00000680552.1:c.279C>G ENSP00000506321.1:p.Pro93=
ENST00000333511.7:c.627C>G ENSP00000333769.3:p.Pro209=
ENST00000346916.8:c.87C>G ENSP00000344707.3:p.Pro29=
ENST00000353555.8:c.279C>G ENSP00000343809.4:p.Pro93=
ENST00000545507.6:c.-1C>G ENSP00000473664.1:n.-1C>G
ENST00000571735.2:n.876C>G
ENST00000572899.5:n.320C>G
ENST00000573216.5:c.255C>G ENSP00000458665.1:p.Pro85=
ENST00000573784.5:c.-1C>G ENSP00000473393.1:n.-1C>G
ENST00000576984.2:c.-1C>G ENSP00000473528.1:n.-1C>G
ENST00000613627.4:c.270C>G ENSP00000484849.1:p.Pro90=
ENST00000614867.2:c.147+854C>G ENSP00000484624.1:n.147+854C>G
ENST00000618006.4:c.68-213C>G ENSP00000478958.1:n.68-213C>G
NM_001728.3:c.627C>G NP_001719.2:p.Pro209=
NM_198589.2:c.279C>G NP_940991.1:p.Pro93=
NM_198590.2:c.-1C>G NP_940992.1:n.-1C>G
NM_198591.2:c.87C>G NP_940993.1:p.Pro29=
XM_005259619.1:c.279C>G XP_005259676.1:p.Pro93=
NM_001322243.1:c.279C>G NP_001309172.1:p.Pro93=
XM_017027173.2:c.627C>G XP_016882662.1:p.Pro209=
NM_001322243.2:c.279C>G NP_001309172.1:p.Pro93=
NM_001728.4:c.627C>G MANE Select NP_001719.2:p.Pro209=
NM_198589.3:c.279C>G NP_940991.1:p.Pro93=
NM_198590.3:c.-1C>G NP_940992.1:n.-1C>G
NM_198591.3:c.87C>G NP_940993.1:p.Pro29=
NM_198591.4:c.-1C>G NP_940993.2:n.-1C>G