Canonical Allele Identifier: CA9541700

Gene: BICRA

Linked Data

• dbSNP Id: rs1035938
• ExAC: 19:48183771 C / T
• gnomAD v2: 19-48183771-C-T
• gnomAD v3: 19-47680514-C-T
• gnomAD v4: 19-47680514-C-T
• MyVariant Identifiers: chr19:g.48183771C>T (hg19) ; chr19:g.47680514C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47680514C>T , CM000681.2:g.47680514C>T	GRCh38
NC_000019.9:g.48183771C>T , CM000681.1:g.48183771C>T	GRCh37
NC_000019.8:g.52875583C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000594866.3:c.1344C>T MANE Select	ENSP00000469738.2:p.Ser448=
ENST00000614245.2:c.618C>T	ENSP00000480219.2:p.Ser206=
ENST00000396720.7:c.1344C>T	ENSP00000379946.2:p.Ser448=
ENST00000614245.1:c.1188C>T	ENSP00000480219.1:p.Ser396=
NM_015711.3:c.1344C>T	NP_056526.3:p.Ser448=
XM_005258833.3:c.1344C>T	XP_005258890.1:p.Ser448=
XM_006723180.2:c.1344C>T	XP_006723243.1:p.Ser448=
XM_011526882.1:c.1206C>T	XP_011525184.1:p.Ser402=
XM_011526883.1:c.1344C>T	XP_011525185.1:p.Ser448=
XM_005258833.4:c.1344C>T	XP_005258890.1:p.Ser448=
XM_006723180.3:c.1344C>T	XP_006723243.1:p.Ser448=
XM_011526882.2:c.1206C>T	XP_011525184.1:p.Ser402=
XM_011526883.2:c.1344C>T	XP_011525185.1:p.Ser448=
NM_001394372.1:c.1344C>T MANE Select	NP_001381301.1:p.Ser448=