Canonical Allele Identifier: CA402858369

Gene: BSG

Linked Data

• MyVariant Identifiers: chr19:g.580397G>C (hg19) ; chr19:g.580397G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.580397G>C , CM000681.2:g.580397G>C	GRCh38
NC_000019.9:g.580397G>C , CM000681.1:g.580397G>C	GRCh37
NC_000019.8:g.531397G>C	NCBI36
NG_007468.1:g.14073G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333511.9:c.591G>C MANE Select	ENSP00000333769.3:p.Gln197His
ENST00000346916.9:c.-37G>C	ENSP00000344707.4:n.-37G>C
ENST00000353555.9:c.243G>C	ENSP00000343809.4:p.Gln81His
ENST00000571735.3:n.826G>C
ENST00000572899.6:n.284G>C
ENST00000573784.6:c.-37G>C	ENSP00000473393.2:n.-37G>C
ENST00000576925.4:n.1028G>C
ENST00000576984.3:c.-37G>C	ENSP00000473528.2:n.-37G>C
ENST00000613627.5:c.86G>C	ENSP00000484849.2:p.Ser29Thr
ENST00000618112.4:c.243G>C	ENSP00000495088.2:p.Gln81His
ENST00000679472.1:c.-37G>C	ENSP00000505067.1:n.-37G>C
ENST00000680065.1:c.-37G>C	ENSP00000506020.1:n.-37G>C
ENST00000680326.1:c.234G>C	ENSP00000505863.1:p.Gln78His
ENST00000680552.1:c.243G>C	ENSP00000506321.1:p.Gln81His
ENST00000333511.7:c.591G>C	ENSP00000333769.3:p.Gln197His
ENST00000346916.8:c.51G>C	ENSP00000344707.3:p.Gln17His
ENST00000353555.8:c.243G>C	ENSP00000343809.4:p.Gln81His
ENST00000545507.6:c.-37G>C	ENSP00000473664.1:n.-37G>C
ENST00000571735.2:n.840G>C
ENST00000572899.5:n.284G>C
ENST00000573216.5:c.219G>C	ENSP00000458665.1:p.Gln73His
ENST00000573784.5:c.-37G>C	ENSP00000473393.1:n.-37G>C
ENST00000576984.2:c.-37G>C	ENSP00000473528.1:n.-37G>C
ENST00000613627.4:c.234G>C	ENSP00000484849.1:p.Gln78His
ENST00000614867.2:c.147+818G>C	ENSP00000484624.1:n.147+818G>C
ENST00000618006.4:c.68-249G>C	ENSP00000478958.1:n.68-249G>C
NM_001728.3:c.591G>C	NP_001719.2:p.Gln197His
NM_198589.2:c.243G>C	NP_940991.1:p.Gln81His
NM_198590.2:c.-37G>C	NP_940992.1:n.-37G>C
NM_198591.2:c.51G>C	NP_940993.1:p.Gln17His
XM_005259619.1:c.243G>C	XP_005259676.1:p.Gln81His
NM_001322243.1:c.243G>C	NP_001309172.1:p.Gln81His
XM_017027173.2:c.591G>C	XP_016882662.1:p.Gln197His
NM_001322243.2:c.243G>C	NP_001309172.1:p.Gln81His
NM_001728.4:c.591G>C MANE Select	NP_001719.2:p.Gln197His
NM_198589.3:c.243G>C	NP_940991.1:p.Gln81His
NM_198590.3:c.-37G>C	NP_940992.1:n.-37G>C
NM_198591.3:c.51G>C	NP_940993.1:p.Gln17His
NM_198591.4:c.-37G>C	NP_940993.2:n.-37G>C